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Cellosaurus TRNDi009-C (CVCL_WU20)

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Cell line name TRNDi009-C
Synonyms HT220C
Accession CVCL_WU20
Resource Identification Initiative To cite this cell line use: TRNDi009-C (RRID:CVCL_WU20)
Comments From: NIH-NCATS-TRND Branch; Rockville; USA.
Population: Caucasian.
Derived from site: In situ; Fetus; UBERON=UBERON_0000323.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:11120; SMPD1; Simple; p.Leu304Pro (c.911T>C) (L302P); ClinVar=VCV000002989; Zygosity=Heterozygous (from parent cell line).
Disease Niemann-Pick disease, type A (NCIt: C126561)
Niemann-Pick disease type A (ORDO: Orphanet_77292)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_7379 (GM03252)
Sex of cell Female
Age at sampling 21FW
Category Induced pluripotent stem cell
Publications

PubMed=31132580; DOI=10.1016/j.scr.2019.101461; PMCID=PMC6686851
Amanda Baskfield, Rong Li, Jeanette K. Beers, Ji-Zhong Zou, Cheng-Yu Liu, Wei Zheng;
An induced pluripotent stem cell line (TRNDi009-C) from a Niemann-Pick disease type A patient carrying a heterozygous p.L302P (c.905T>C) mutation in the SMPD1 gene.
Stem Cell Res. 38:101461-101461(2019)

Cross-references
Cell line databases/resources hPSCreg; TRNDi009-C
Encyclopedic resources Wikidata; Q98133601
Entry history
Entry creation05-Jul-2019
Last entry update19-Dec-2024
Version number8