ID   CTGUi001-A
AC   CVCL_C6P3
SY   F01; FD01; FD-01
DR   BioSamples; SAMEA111265587
DR   hPSCreg; CTGUi001-A
DR   Wikidata; Q117704277
RX   PubMed=36917862;
CC   From: China Three Gorges University; Yichang; China.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; 4296; GLA; Simple; p.Cys52Ter (c.156C>A); Zygosity=Hemizygous (PubMed=36917862).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84701; Fabry disease
DI   ORDO; Orphanet_324; Fabry disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   16Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 29-06-23; Version: 2
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RX   PubMed=36917862; DOI=10.1016/j.scr.2023.103063;
RA   Qin Y., Zhan J.-Q., Ma C.-J., Cao C.-Y., Zhang Y., Min Y.-T.,
RA   Lv Y.-F.;
RT   "Generation and characterization of iPS cell line (CTGUi001-A) from
RT   skin fibroblasts of a patient with Fabry disease.";
RL   Stem Cell Res. 69:103063-103063(2023).
//