ID   TRNDi009-B
AC   CVCL_WU19
SY   HT220B
DR   hPSCreg; TRNDi009-B
DR   Wikidata; Q98133600
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: 8
//