ID   GM11097
AC   CVCL_DA34
DR   CLO; CLO_0023029
DR   Coriell; GM11097
DR   Wikidata; Q54844858
RX   CelloPub=CLPUB00447;
RX   PubMed=31009819;
CC   Sequence variation: Mutation; HGNC; 11120; SMPD1; Simple; p.Leu43_Ala44del; Zygosity=Heterozygous (from child cell line TRNDi004-I).
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)
SX   Male
AG   1Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 29-06-23; Version: 12
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
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).
//