ID   TRNDi004-I
AC   CVCL_UL22
SY   HT222I; GM28078; GM28078*C
DR   Coriell; GM28078
DR   hPSCreg; TRNDi004-I
DR   Wikidata; Q98133589
RX   PubMed=31009819;
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Sequence variation: Mutation; HGNC; 11120; SMPD1; Simple; p.Leu43_Ala44del; Zygosity=Heterozygous (PubMed=31009819).
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: 8
//
RX   PubMed=31009819; DOI=10.1016/j.scr.2019.101436;
RA   Baskfield A., Li R., Beers J.K., Zou J.-H., Liu C.-Y., Zheng W.;
RT   "Generation of an induced pluripotent stem cell line (TRNDi004-I) from
RT   a Niemann-Pick disease type B patient carrying a heterozygous mutation
RT   of p.L43_A44delLA in the SMPD1 gene.";
RL   Stem Cell Res. 37:101436-101436(2019).
//