ID   TRNDi004-H
AC   CVCL_UL21
SY   HT222H
DR   hPSCreg; TRNDi004-H
DR   Wikidata; Q98133588
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Sequence variation: Mutation; HGNC; 11120; SMPD1; Simple; p.Leu43_Ala44del; Zygosity=Heterozygous (from parent cell line).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126866; Niemann-Pick disease, type B
DI   ORDO; Orphanet_77293; Niemann-Pick disease type B
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_DA34 ! GM11097
SX   Male
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 9
//