ID   GM03123
AC   CVCL_7374
SY   GM3123; GM03123*A
DR   CLO; CLO_0003529
DR   CLO; CLO_0013588
DR   CLDB; cl1496
DR   BioSample; SAMN00808257
DR   Coriell; GM03123
DR   Wikidata; Q54837885
RX   CelloPub=CLPUB00447;
RX   PubMed=29631617;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7897; NPC1; Simple; p.Pro237Ser (c.709C>T); ClinVar=VCV000021142; Zygosity=Heterozygous (Coriell=GM03123).
CC   Sequence variation: Mutation; HGNC; 7897; NPC1; Simple; p.Ile1061Thr (c.3182T>C); ClinVar=VCV000002967; Zygosity=Heterozygous (Coriell=GM03123).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126864; Niemann-Pick disease, type C1
DI   ORDO; Orphanet_646; Niemann-Pick disease type C
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_7375 ! GM03124
SX   Female
AG   9Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 30-01-24; Version: 19
//
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=29631617; DOI=10.1186/s13023-018-0798-2;
RA   Sima N., Li R., Huang W., Xu M., Beers J.K., Zou J.-Z., Titus S.A.,
RA   Ottinger E.A., Marugan J.J., Xie X., Zheng W.;
RT   "Neural stem cells for disease modeling and evaluation of therapeutics
RT   for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal
RT   ceroid lipofuscinoses.";
RL   Orphanet J. Rare Dis. 13:54.1-54.14(2018).
//