Cellosaurus cell line TRNDi030-A (CVCL

Cross-references
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 site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; 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; PMCID=PMC8314383 Brianna M. Brooks, Charles D. Yeh, Jeanette K. Beers, Cheng-Yu Liu, Yu-Shan Cheng, Kirill Gorshkov, Ji-Zhong Zou, Wei Zheng, Catherine Z. Chen; 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)
Cell line databases/resources	hPSCreg; TRNDi030-A
Encyclopedic resources	Wikidata; Q108821399
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	6