ID   CMCi007-A
AC   CVCL_A4EP
SY   CMC-Fb-004; CMC-Fb-004-hiPSCs; Fb4-hiPSC
DR   BioSamples; SAMEA7807667
DR   hPSCreg; CMCi007-A
DR   Wikidata; Q105506651
RX   PubMed=33545641;
CC   From: The Catholic University of Korea; Seoul; South Korea.
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; 4296; GLA; Simple; p.Leu324Trpfs*24 (c.969delC); ClinVar=VCV001050825; Zygosity=Heterozygous (PubMed=33545641).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84701; Fabry disease
DI   ORDO; Orphanet_324; Fabry disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   50Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 6
//
RX   PubMed=33545641; DOI=10.1016/j.scr.2021.102214;
RA   Cui S., Shin Y.J., Ko E.J., Lim S.W., Ju J.H., Lee K.I., Lee J.Y.,
RA   Yang C.W., Chung B.H.;
RT   "Human-induced pluripotent stem cell lines (CMCi006-A and CMCi007-A)
RT   from a female and male patient with Fabry disease carrying the same
RT   frameshift deletion mutation.";
RL   Stem Cell Res. 51:102214-102214(2021).
//