ID   PUMCi002-A
AC   CVCL_A9YW
SY   C1; AF-iPSCs
DR   BioSamples; SAMEA111399454
DR   hPSCreg; PUMCi002-A
DR   Wikidata; Q102114792
RX   PubMed=36270068;
CC   From: Peking Union Medical College; Beijing; China.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; 4115; GALC; Simple; p.Pro154His (c.461C>A); ClinVar=VCV001457103; Zygosity=Heterozygous (PubMed=36270068).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   46Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 05-10-23; Version: 6
//
RX   PubMed=36270068; DOI=10.1016/j.scr.2022.102945;
RA   Lv Y.-F., Wang J., Cao C.-Y., Zhang Y., Wang W.;
RT   "Production and characterization of human induced pluripotent stem
RT   cell line (PUMCi002-A) from a Krabbe patient related control to study
RT   disease mechanisms associated with GALC mutation.";
RL   Stem Cell Res. 65:102945-102945(2022).
//