76 Matching Annotations
  1. Jun 2025
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Physiological role and mechanisms of action for a long noncoding haplotype region
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12263090/
  3. May 2025
  4. www.sciencedirect.com www.sciencedirect.com
    Generation of integration-free induced pluripotent stem cell (iPSC) line MURAi002-A from hemoglobin E/β-thalassemia disease patient harboring βE/β0 (CD41/42, –CTTT) compound heterozygous mutation
    1
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    sciencedirect.com/science/article/pii/S1873506125000935
  5. Apr 2025
  6. www.sciencedirect.com www.sciencedirect.com
    Generation of an integration-free induced pluripotent stem cell line, MURAi006-A, from a hemoglobin E/β-thalassemia patient harboring the βE/β0 (Codon 17, A > T) compound heterozygous mutation
    1
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    sciencedirect.com/science/article/pii/S1873506125000522
  7. Mar 2025
  8. www.sciencedirect.com www.sciencedirect.com
    Human induced pluripotent stem cell line (PNUSCRi006-A) derived from a patient with Sanfilippo syndrome type A exhibiting a mutation in SGSH gene
    1
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    sciencedirect.com/science/article/pii/S1873506125000406
  9. Jan 2025
  10. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell line from a Kennedy Disease patient with AR mutation
    1
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    sciencedirect.com/science/article/pii/S1873506124003477
  11. www.sciencedirect.com www.sciencedirect.com
    Human induced pluripotent stem cell line (PNUSCRi005-A) generated from severe type of Hunter syndrome patient carrying exonic deletion (exon 4–7 del) in in human iduronate 2-sulfatase gene
    1
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    sciencedirect.com/science/article/pii/S1873506124003374
  12. Sep 2024
  13. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell line from a type 1 neurofibromatosis patient with NF1 mutation
    1
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    sciencedirect.com/science/article/pii/S1873506124002666
  14. Aug 2024
  15. www.sciencedirect.com www.sciencedirect.com
    Generation of a human SLC12A3 knock-in human induced pluripotent stem cell line (CMCi014-A-82) using CRISPR-Cas9 system
    1
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    sciencedirect.com/science/article/pii/S1873506124002204
  16. Jul 2024
  17. www.sciencedirect.com www.sciencedirect.com
    Generation of integration-free human induced pluripotent stem cell line MURAi003-A derived from the peripheral blood mononuclear cells of a donor with homozygous Class I and Class II HLAs (A*11:01, B*46:01; C*01:02; DRB1*09:01; DQB1*03:03)
    1
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    sciencedirect.com/science/article/pii/S1873506124002125
  18. www.sciencedirect.com www.sciencedirect.com
    Generation of green fluorescent protein reporter knock-in iPSC line at the 3′UTR region of the KLOTHO locus
    1
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    sciencedirect.com/science/article/pii/S1873506124001971
  19. www.sciencedirect.com www.sciencedirect.com
    Establishment of an iPSC line from a NDD patient with a heterozygous mutation in the CTNNB1 gene
    1
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    sciencedirect.com/science/article/pii/S1873506124001855
  20. May 2024
  21. www.sciencedirect.com www.sciencedirect.com
    Characterization of a human induced pluripotent stem cell line (FDCHi015-A) derived from PBMCs of a patient harbouring ALDOB mutation
    1
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    sciencedirect.com/science/article/pii/S1873506124001491
  22. Mar 2024
  23. www.sciencedirect.com www.sciencedirect.com
    Generation and characterization of an induced pluripotent stem cell (iPSC) line SDQLCHi063-A from peripheral blood mononuclear cells of a patient with Maturity-onset diabetes of the young type 2 carrying GCK exon 1 deletion
    2
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    sciencedirect.com/science/article/pii/S1873506124000874
  24. www.sciencedirect.com www.sciencedirect.com
    Establishment of a non-integrated iPSC (SDQLCHi066-A) line derived from Segawa syndrome patients harboring heterozygous mutations in the TH gene (p.G247S and p.D491H)
    2
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    sciencedirect.com/science/article/pii/S1873506124000904
  25. www.sciencedirect.com www.sciencedirect.com
    An achievement has been made in establishing an induced pluripotent stem cell line (SDPHi005-A) from a healthy Chinese male donor
    2
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    sciencedirect.com/science/article/pii/S1873506124000916
  26. www.sciencedirect.com www.sciencedirect.com
    Establishment of a non-integrated iPSC (SDQLCHi068-A) line derived from a patient with autosomal dominant immunodeficiency-14A carrying a heterozygous mutation (c.3061G>A) in PIK3CD gene
    1
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    sciencedirect.com/science/article/pii/S1873506124000837
  27. www.sciencedirect.com www.sciencedirect.com
    Derivation of an induced pluripotent stem cell line (FDCHi014-A) from PBMCs of a seven-year-old patient with a truncating NOVA2 variant (c.625del)
    1
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    sciencedirect.com/science/article/pii/S1873506124000679
  28. Feb 2024
  29. www.sciencedirect.com www.sciencedirect.com
    A non-integrated iPSC line (SDQLCHi042-A) from a boy suffering from familial combined hyperlipidemia with compound heterozygous mutations of lipoprotein lipase gene
    1
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    sciencedirect.com/science/article/pii/S1873506121001598
  30. www.sciencedirect.com www.sciencedirect.com
    An integration-free iPSC line SDQLCHi065-A from a patient with down syndrome, possessing a 47, XY,+21, inv(9)(p12q21),16qh + karyotype
    1
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    sciencedirect.com/science/article/pii/S1873506124000497
  31. Jan 2024
  32. www.sciencedirect.com www.sciencedirect.com
    Generation of a human induced pluripotent stem cell line (SDQLCHi057-A) from an Isovaleric aciduria patient carrying novel compound heterozygous mutations in the IVD gene
    1
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    sciencedirect.com/science/article/pii/S1873506124000126
  33. Dec 2023
  34. www.sciencedirect.com www.sciencedirect.com
    Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations
    1
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    sciencedirect.com/science/article/pii/S1873506123002775
  35. www.sciencedirect.com www.sciencedirect.com
    Generation and characterization of PBMCs-derived human induced pluripotent stem cell (iPSC) line SDQLCHi050-A from a healthy donor
    1
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    sciencedirect.com/science/article/pii/S1873506123002520
  36. Nov 2023
  37. www.sciencedirect.com www.sciencedirect.com
    An induced pluripotent stem cell line (SDQLCHi062-A) from a patient carrying a mutation in the PAX2 gene
    1
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    sciencedirect.com/science/article/pii/S1873506123002465
  38. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell (iPSC) line SDQLCHi056-A from a patient with Nicolaides-Baraitser syndrome carrying a mutation in SMARCA2 gene
    1
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    sciencedirect.com/science/article/pii/S1873506123002301
  39. Jun 2023
  40. www.sciencedirect.com www.sciencedirect.com
    Generation of a human induced pluripotent stem cell line from a patient with dent disease
    1
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    sciencedirect.com/science/article/pii/S1873506123001265
  41. www.sciencedirect.com www.sciencedirect.com
    Generation of a transgene-free iPS cell line (SDQLCHi053-A) from a young girl carrying a heterozygous mutation (c.427C>T) in SYNGAP1 gene
    1
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    sciencedirect.com/science/article/pii/S1873506123001186
  42. May 2023
  43. www.sciencedirect.com www.sciencedirect.com
    Generation and characterization of PBMCs-derived human induced pluripotent stem cell (iPSC) line SDQLCHi051-A from an autism spectrum disorder patient with compound CHD8 gene mutations
    1
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    sciencedirect.com/science/article/pii/S1873506123001009
  44. Feb 2023
  45. www.sciencedirect.com www.sciencedirect.com
    Characterization of human induced pluripotent stem cells line (PNUSCRi004-A) from a Parkinson’s disease patient carrying L483P, A495P and V499V mutations
    1
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    sciencedirect.com/science/article/pii/S1873506123000375
  46. Nov 2022
  47. www.sciencedirect.com www.sciencedirect.com
    Establishment of an induced pluripotent stem cell (iPSC) line SDQLCHi045-A from peripheral blood mononuclear cells of a patient with Coffin-Siris syndrome 1 carrying a mutation in ARID1B gene
    1
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    sciencedirect.com/science/article/pii/S1873506122003312
  48. Oct 2022
  49. www.sciencedirect.com www.sciencedirect.com
    Generation of two PITX2 knock-out human induced pluripotent stem cell lines using CRISPR/Cas9 system
    1
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    sciencedirect.com/science/article/pii/S1873506122002896
  50. Sep 2022
  51. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell line (SDQLCHi044-A) from a patient with autosomal dominant mental retardation type 5 harboring heterozygous mutation in SYNGAP1 gene
    1
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    sciencedirect.com/science/article/pii/S1873506122002719
  52. Aug 2022
  53. www.sciencedirect.com www.sciencedirect.com
    Generation of three TTN knock-out human induced pluripotent stem cell lines using CRISPR/Cas9 system
    1
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    sciencedirect.com/science/article/pii/S1873506122002501
  54. Jul 2022
  55. www.sciencedirect.com www.sciencedirect.com
    Generation of a heterozygous TPM1-E192K knock-in human induced pluripotent stem cell line using CRISPR/Cas9 system
    1
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    sciencedirect.com/science/article/pii/S1873506122002276
  56. May 2022
  57. www.sciencedirect.com www.sciencedirect.com
    Therapeutic development for Canavan disease using patient iPSCs introduced with the wild-type ASPA gene
    1
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    sciencedirect.com/science/article/pii/S2589004222006629
  58. Jan 2022
  59. www.sciencedirect.com www.sciencedirect.com
    Establishment of human induced pluripotent stem cell line MUi028-A from normal fetal skin fibroblasts
    1
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    sciencedirect.com/science/article/pii/S1873506122000241
  60. Sep 2021
  61. www.sciencedirect.com www.sciencedirect.com
    Non-integrating episomal vectors induced pluripotent stem cell line (SDPHi001-A) from a healthy female individual
    1
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    sciencedirect.com/science/article/pii/S1873506121003871
  62. www.sciencedirect.com www.sciencedirect.com
    Establishment of human induced pluripotent stem cell line (SDQLCHi040-A) from a patient with Infantile-onset inflammatory bowel disease carrying a homozygous mutation in IL10RA gene
    1
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    sciencedirect.com/science/article/pii/S1873506121003809
  63. Apr 2021
  64. www.sciencedirect.com www.sciencedirect.com
    Generation of a human induced pluripotent stem cell line from a familial Alzheimer's disease PSEN1 T119I patient
    1
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    sciencedirect.com/science/article/pii/S1873506121001719
  65. Mar 2021
  66. www.sciencedirect.com www.sciencedirect.com
    A non-integrated iPSC line (SDQLCHi042-A) from a boy suffering from familial combined hyperlipidemia with compound heterozygous mutations of lipoprotein lipase gene
    1
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    sciencedirect.com/science/article/pii/S1873506121001598
  67. Feb 2021
  68. www.sciencedirect.com www.sciencedirect.com
    Generation of a NONO homozygous knockout human induced pluripotent stem cell line by CRISPR/Cas9 editing
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    sciencedirect.com/science/article/pii/S187350612030194X
  69. www.sciencedirect.com www.sciencedirect.com
    Generation of the human induced pluripotent stem cell lines (CMCi009-A) from a patients with Birt-Hogg-Dubé syndrome (BHD) with heterozygous frameshift deletion mutation c.1285delC of the FLCN gene
    1
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    sciencedirect.com/science/article/pii/S1873506121000611
  70. www.sciencedirect.com www.sciencedirect.com
    Human-induced pluripotent stem cell lines (CMCi006-A and CMCi007-A) from a female and male patient with Fabry disease carrying the same frameshift deletion mutation
    1
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    sciencedirect.com/science/article/pii/S187350612100060X
  71. Jan 2021
  72. www.sciencedirect.com www.sciencedirect.com
    Generation of a human induced pluripotent stem cells (MUi015-A) from skin fibroblast of retinoblastoma patient with 13q deletion syndrome
    1
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    sciencedirect.com/science/article/pii/S187350612100057X
  73. www.sciencedirect.com www.sciencedirect.com
    Reprogramming of human peripheral blood mononuclear cell (PBMC) from a patient suffering from hearing loss into iPSC line (SDQLCHi035-A) maintaining compound heterozygous variations in GJB2 gene
    1
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    sciencedirect.com/science/article/pii/S1873506121000349
  74. www.sciencedirect.com www.sciencedirect.com
    PBMC-derived integration-free iPSCs line SDQLCHi039-A from a patient with X-linked agammaglobulinemia carrying a novel 9-bp in-frame deletion in BTK gene
    1
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    sciencedirect.com/science/article/pii/S1873506121000118
  75. Dec 2020
  76. www.sciencedirect.com www.sciencedirect.com
    Establishment of a non-integrate iPS cell line (SDQLCHi023-A) from a patient with Xq25 microduplication syndrome carrying a 1.3 Mb hemizygote duplication at chrXq25
    1
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    sciencedirect.com/science/article/pii/S1873506120304487
  77. www.sciencedirect.com www.sciencedirect.com
    Generation of a FOXH1 homozygous knockout human embryonic stem cell line by CRISPR/Cas9 system
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    sciencedirect.com/science/article/pii/S1873506120304220
  78. Nov 2020
  79. www.sciencedirect.com www.sciencedirect.com
    Generation of a RGS18 gene knockout cell line from a human embryonic stem cell line by CRISPR/Cas9
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    sciencedirect.com/science/article/pii/S1873506120303731
  80. Sep 2020
  81. www.sciencedirect.com www.sciencedirect.com
    Generation of an integration-free induced pluripotent stem cell (iPSC) line (ZZUNEUi005-A) from a Wilson's disease patient harboring a homozygous Pro992Leu mutation in ATP7B gene
    1
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    sciencedirect.com/science/article/pii/S1873506120302105
  82. www.sciencedirect.com www.sciencedirect.com
    Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation
    1
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    sciencedirect.com/science/article/pii/S1873506120301252
  83. www.sciencedirect.com www.sciencedirect.com
    Generation of an integration-free induced pluripotent stem cell (iPSC) line (ZZUNEUi002-A) from a patient with spinocerebellar ataxia type 3
    1
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    sciencedirect.com/science/article/pii/S1873506120301999
  84. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and Ornithine Transcarbamylase Deficiency carrying a hemizygote mutation in OTC
    1
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    sciencedirect.com/science/article/pii/S1873506120300064
  85. www.sciencedirect.com www.sciencedirect.com
    Generation of an integration-free induced pluripotent stem cell (iPSC) line (ZZUNEUi001-A) from a healthy male individual
    1
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    sciencedirect.com/science/article/pii/S1873506120301112
  86. www.sciencedirect.com www.sciencedirect.com
    Generation of a human induced pluripotent stem cell line (CPGHi001-A) from a hearing loss patient with the TMC1 p.M418K mutation
    1
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    sciencedirect.com/science/article/pii/S187350612030283X
  87. Aug 2020
  88. www.sciencedirect.com www.sciencedirect.com
    Generation of a human induced pluripotent stem cell line (CMCi001-A) from a patient with karyomegalic interstitial nephritis with homozygous frameshift deletion mutation c.1985_1994del10 of the FANCD2/FANCI-Associated Nuclease 1 gene
    1
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    sciencedirect.com/science/article/pii/S187350612030177X
  89. Jan 2020
  90. www.sciencedirect.com www.sciencedirect.com
    Generation of two induced pluripotent stem cell lines from patients with unbalanced translocation (3;22)
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    sciencedirect.com/science/article/pii/S1873506119301758
  91. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell line (SDQLCHi003-a) from a patient with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations in DYNC2H1
    1
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    sciencedirect.com/science/article/pii/S1873506119301357
  92. www.sciencedirect.com www.sciencedirect.com
    Establishment of a human induced pluripotent stem cell line (SDQLCHi005-A) from a patient with mastocytosis carrying heterozygous mutation in KIT gene
    1
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    sciencedirect.com/science/article/pii/S1873506119301953
  93. www.sciencedirect.com www.sciencedirect.com
    Generation of FOS gene knockout lines from a human embryonic stem cell line using CRISPR/Cas9
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    sciencedirect.com/science/article/pii/S1873506119301096
  94. www.sciencedirect.com www.sciencedirect.com
    Generation of two ERF gene knockout human embryonic stem cell lines using CRISPR/Cas9 System
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    sciencedirect.com/science/article/pii/S1873506119302740
  95. www.sciencedirect.com www.sciencedirect.com
    Generation of an integration-free induced pluripotent stem cell (iPSC) line (ZZUNEUi003-A) from a Wilson's disease patient harboring a homozygous R778L mutation in ATP7B gene
    1
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    sciencedirect.com/science/article/pii/S1873506119302946
  96. www.sciencedirect.com www.sciencedirect.com
    Establishment of a human induced pluripotent stem cell line (SDQLCHi004-A) from a patient with nemaline myopathy-4 disease carrying heterozygous mutation in TPM2 gene
    1
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    sciencedirect.com/science/article/pii/S1873506119301898
  97. www.sciencedirect.com www.sciencedirect.com
    Generation of a DAPK1 knockout first (conditional ready) human embryonic stem cell line (ZSSYe001-A) by CRISPR-Cas9 technology
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    sciencedirect.com/science/article/pii/S187350611930323X
  98. www.sciencedirect.com www.sciencedirect.com
    Generation of an induced pluripotent stem cell line (SDQLCHi008-A) from a patient with ASD and DD carrying an 830 kb de novo deletion at chr7q11.22 including the exon 1 of AUTS2 gene
    1
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    sciencedirect.com/science/article/pii/S1873506119301874
  99. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Derivation of primitive neural stem cells from human induced pluripotent stem cells
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    onlinelibrary.wiley.com/doi/abs/10.1002/cne.24727
  100. www.sciencedirect.com www.sciencedirect.com
    Generation of two induced pluripotent stem cell (iPSC) lines from human breast milk using episomal reprogramming system
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    sciencedirect.com/science/article/pii/S1873506119301412
  101. www.sciencedirect.com www.sciencedirect.com
    Untitled document
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    sciencedirect.com/science/article/pii/S1873506119300443
  102. www.sciencedirect.com www.sciencedirect.com
    Untitled document
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    sciencedirect.com/science/article/pii/S1873506119300273
  103. Nov 2018
  104. www.sciencedirect.com www.sciencedirect.com
    Untitled document
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    sciencedirect.com/science/article/pii/S193459091830345X
  105. www.sciencedirect.com www.sciencedirect.com
    Generation of a GDE heterozygous mutation human embryonic stem cell line WAe001-A-14 by CRISPR/Cas9 editing
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    sciencedirect.com/science/article/pii/S1873506117302672
  106. Nov 2017
  107. www.sciencedirect.com www.sciencedirect.com
    Untitled document
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    sciencedirect.com/science/article/pii/S187350611730082X
  108. www.sciencedirect.com www.sciencedirect.com
    Untitled document
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    sciencedirect.com/science/article/pii/S1873506117301046
  109. www.sciencedirect.com www.sciencedirect.com
    Generation of two MEN1 knockout lines from a human embryonic stem cell line
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    sciencedirect.com/science/article/pii/S1873506117301058