Cellosaurus cell line TRNDi001-D (CVCL

Cross-references
Cell line name	TRNDi001-D
Synonyms	HT307D; GM28227; GM28227*A
Accession	CVCL_UL07
Resource Identification Initiative	To cite this cell line use: TRNDi001-D (RRID:CVCL_UL07)
Comments	From: NIH-NCATS-TRND Branch; Rockville; USA. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Ile1061Thr (c.3182T>C); ClinVar=VCV000002967; Zygosity=Homozygous (PubMed=32114296).
Disease	Niemann-Pick disease, type C1 (NCIt: C126864) Niemann-Pick disease type C (ORDO: Orphanet_646)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_DA78 (GM18453)
Sex of cell	Male
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=32114296; DOI=10.1016/j.scr.2020.101737; PMCID=PMC7218921 Li R., Pradhan M., Xu M., Roeder A., Beers J.K., Zou J.-H., Liu C.-Y., Porter F.D., Zheng W. An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p.I1061T (c.3182T>C) mutation in the NPC1 gene. Stem Cell Res. 44:101737-101737(2020)
Cell line collections (Providers)	Coriell; GM28227
Cell line databases/resources	hPSCreg; TRNDi001-D
Encyclopedic resources	Wikidata; Q98133571
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	11