Biblio
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation. Stem Cell Res. 2019;37:101437.
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi006-A from a patient affected by an autosomal recessive form of long QT syndrome type 1. Stem Cell Res. 2019;42:101658.
. Generation of the human induced pluripotent stem cell line (IBKMOLi002-A) from PBMCs of a patient carrying the heterozygous L271H mutation of the voltage-gated calcium channel subunit Ca1.3-encoding CACNA1D gene. Stem Cell Res. 2022;61:102784.
. Generation of the human induced pluripotent stem cell line PUMCi005-A from a patient with Perrault syndrome. Stem Cell Res. 2024;75:103318.
. Generation of the human induced pluripotent stem cell line (SHAMUi001-A) carrying the heterozygous c.-128G>T mutation in the 5'-UTR of the ANKRD26 gene. Stem Cell Res. 2020;48:102002.
Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene. Stem Cell Res. 2018;31:222-226.
. Generation of the human induced pluripotent stem cell line UKWNLi002-A from dermal fibroblasts of a woman with a heterozygous c.608 C>T (p.Thr203Met) mutation in exon 3 of the nerve growth factor gene potentially associated with hereditary sensory and aut. Stem Cell Res. 2018;33:171-174.
. Generation of the human induced pluripotent stem cell line (ZJUi005-A) from a patient with Pelizaeus-Merzbacher disease (PMD) carrying a novel hemizygous mutation in PLP1 gene. Stem Cell Res. 2020;45:101791.
Generation of the human induced pluripotent stem cell lines (CMCi009-A) from a patient with Birt-Hogg-Dubé syndrome (BHD) with heterozygous frameshift deletion mutation c.1285delC of the FLCN gene. Stem Cell Res. 2021;51:102215.
. Generation of the human iPSC line ESi082-A from a patient with macular dystrophy associated to mutations in the CRB1 gene. Stem Cell Res. 2021;53:102301.
. Generation of the human iPSC lines AKOSi011-A carrying the mutation p.Pro65Ser/p.Asp35T and AKOSi012-A, carrying the mutation p.Tyr231His, derived from FAHN patient fibroblasts. Stem Cell Res. 2023;71:103178.
. Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line. Stem Cell Res. 2019;40:101547.
Generation of the induced pluripotent stem cell (hiPSC) line (JUFMDOi004-A) from a patient with hearing loss carrying GJB2 (p.V37I) mutation. Stem Cell Res. 2019;43:101674.
Generation of the induced pluripotent stem cell line from a patient with autosomal recessive ABCA4-mediated Stargardt Macular Dystrophy. Stem Cell Res. 2018;34:101352.
. Generation of the induced pluripotent stem cell line, ICAGi002-A, from unaffected carrier megabase scaled duplication involving the CNTN6 gene. Stem Cell Res. 2019;40:101556.
. Generation of the induced pluripotent stem cell line KUMi001-A carrying the Philadelphia chromosome from a chronic myeloid leukemia patient. Stem Cell Res. 2021;55:102464.
. Generation of the induced pluripotent stem cell line (NCKDi002-A) from a 22-year-old patient with Focal Segmental Glomerular Sclerosis carrying a heterozygous mutation in WT1 gene. Stem Cell Res. 2021;53:102293.
. Generation of the induced pluripotent stem cell line (NCKDi004-A) from a 17-year-old patient with Alport syndrome carring a homozygous mutation in COL4A3 gene. Stem Cell Res. 2021;56:102557.
. Generation of the induced pluripotent stem cell line SFMUi001-A from a patient with usher syndrome type 2 caused by biallelic variants in the USH2A gene. Stem Cell Res. 2023;69:103101.
. Generation of the induced pluripotent stem cell line UHOMi001-A from a patient with mutations in CCDC40 gene causing Primary Ciliary Dyskinesia (PCD). Stem Cell Res. 2018;33:15-19.
Generation of the induced pluripotent stem cell line UKWNLi005-A derived from a patient with the GLA mutation c.376A > G of unknown pathogenicity in Fabry disease. Stem Cell Res. 2022;61:102747.
. Generation of the induced pluripotent stem cell line UNIBSi017-A from an individual with cardiospondylocarpofacial syndrome and the MAP3K7 c.737-7A > G variant. Stem Cell Res. 2022;63:102837.
Generation of the induced pluripotent stem cell(iPSC) line (AHQUi001-A) from a patient with familial hypertriglyceridemia (FHTG) carrying a heterozygous p.C310R (c.928 T > C) mutation in LPL gene. Stem Cell Res. 2020;45:101802.
. Generation of the integration-free induced pluripotent stem cell line (FHUSTCi001-A) from a patient with glomerulopathy with fibronectin deposits harboring FN1 mutation. Stem Cell Res. 2022;61:102751.
. Generation of the iPSC line CUIMCi003-A derived from a patient with severe early onset obesity. Stem Cell Res. 2021;54:102432.
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