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Cellosaurus TRNDi030-A (CVCL_A8PD)

[Text version]

Cell line name TRNDi030-A
Synonyms NCATS-CL8549; HT143A
Accession CVCL_A8PD
Resource Identification Initiative To cite this cell line use: TRNDi030-A (RRID:CVCL_A8PD)
Comments From: NIH-NCATS-TRND Branch; Rockville; USA.
Population: Tunisian.
Derived from sampling site: Skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 735; ASAH1; Simple; p.Tyr36Cys (c.107A>G) (p.Tyr52Cys, c.155A>G); ClinVar=VCV000000093; Zygosity=Homozygous (PubMed=34088014).
Disease Farber lipogranulomatosis (NCIt: C84710)
Farber disease (ORDO: Orphanet_333)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_8A69 (GM20015)
Sex of cell Male
Age at sampling 0-2Y
Category Induced pluripotent stem cell
Publications

PubMed=34088014; DOI=10.1016/j.scr.2021.102387
Brooks B.M., Yeh C.D., Beers J.K., Liu C.-Y., Cheng Y.-S., Gorshkov K., Zou J.-H., Zheng W., Chen C.Z.
Generation of an induced pluripotent stem cell line (TRNDi030-A) from a patient with Farber disease carrying a homozygous p. Y36C (c. 107 A>G) mutation in ASAH1.
Stem Cell Res. 53:102387-102387(2021)

Cross-references
Cell line databases/resources hPSCreg; TRNDi030-A
Encyclopedic resources Wikidata; Q108821399
Entry history
Entry creation23-Sep-2021
Last entry update17-Mar-2022
Version number3