Home  |  Contact

Cellosaurus TRNDi001-D (CVCL_UL07)

[Text version]

Cell line name TRNDi001-D
Synonyms HT307D
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 sampling site: Skin.
Sequence variations Mutation; 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
Li R., Pradhan M., Xu M., Roeder A., Beers J., Zou J., Liu C., 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)

Cross-references
Cell line databases/resources hPSCreg; TRNDi001-D
Other Wikidata; Q98133571
Entry history
Entry creation25-Feb-2019
Last entry update20-May-2021
Version number5