ID   TRNDi009-C
AC   CVCL_WU20
SY   HT220C
DR   hPSCreg; TRNDi009-C
DR   Wikidata; Q98133601
RX   PubMed=31132580;
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 11120; SMPD1; Simple; p.Leu304Pro (c.911T>C) (L302P); ClinVar=VCV000002989; Zygosity=Heterozygous (from parent cell line).
CC   Derived from site: In situ; Fetus; UBERON=UBERON_0000323.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C126561; Niemann-Pick disease, type A
DI   ORDO; Orphanet_77292; Niemann-Pick disease type A
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_7379 ! GM03252
SX   Female
AG   21FW
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=31132580; DOI=10.1016/j.scr.2019.101461;
RA   Baskfield A., Li R., Beers J.K., Zou J.-H., Liu C.-Y., Zheng W.;
RT   "An induced pluripotent stem cell line (TRNDi009-C) from a
RT   Niemann-Pick disease type A patient carrying a heterozygous p.L302P
RT   (c.905T>C) mutation in the SMPD1 gene.";
RL   Stem Cell Res. 38:101461-101461(2019).
//