ID   TRNDi027-A
AC   CVCL_B5V1
SY   HT237A
DR   hPSCreg; TRNDi027-A
DR   Wikidata; Q112041857
RX   PubMed=29631617;
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7897; NPC1; Simple; p.Pro237Ser (c.709C>T); ClinVar=VCV000021142; Zygosity=Heterozygous (PubMed=29631617).
CC   Sequence variation: Mutation; HGNC; 7897; NPC1; Simple; p.Ile1061Thr (c.3182T>C); ClinVar=VCV000002967; Zygosity=Heterozygous (PubMed=29631617).
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)
HI   CVCL_7374 ! GM03123
SX   Female
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 29-06-23; Version: 4
//
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).
//