ID   GM27463
AC   CVCL_A8QQ
SY   GM27463*A; HT139B
DR   Coriell; GM27463
DR   Wikidata; Q108820295
RX   PubMed=27484861;
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:11120; SMPD1; Simple; p.Leu304Pro (c.911T>C) (L302P); ClinVar=VCV000002989; Zygosity=Homozygous (Coriell=GM27463).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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_AX26 ! GM16195
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 7
//
RX   PubMed=27484861; DOI=10.5966/sctm.2015-0373; PMCID=PMC5189647;
RA   Long Y., Xu M., Li R., Dai S., Beers J.K., Chen G.-K., Soheilian F.,
RA   Baxa U., Wang M.-Q., Marugan J.J., Muro S., Li Z.-Y., Brady R.O.,
RA   Zheng W.;
RT   "Induced pluripotent stem cells for disease modeling and evaluation of
RT   therapeutics for Niemann-Pick disease type A.";
RL   Stem Cells Transl. Med. 5:1644-1655(2016).
//