ID   TRNDi030-A
AC   CVCL_A8PD
SY   NCATS-CL8549; HT143A
DR   hPSCreg; TRNDi030-A
DR   Wikidata; Q108821399
RX   PubMed=34088014;
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Population: Tunisian.
CC   Sequence variation: Mutation; HGNC; 735; ASAH1; Simple; p.Tyr36Cys (c.107A>G) (p.Tyr52Cys, c.155A>G); ClinVar=VCV000000093; Zygosity=Homozygous (PubMed=34088014).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84710; Farber lipogranulomatosis
DI   ORDO; Orphanet_333; Farber disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_8A69 ! GM20015
SX   Male
AG   0-2Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=34088014; DOI=10.1016/j.scr.2021.102387;
RA   Brooks B.M., Yeh C.D., Beers J.K., Liu C.-Y., Cheng Y.-S., Gorshkov K.,
RA   Zou J.-H., Zheng W., Chen C.Z.;
RT   "Generation of an induced pluripotent stem cell line (TRNDi030-A) from
RT   a patient with Farber disease carrying a homozygous p. Y36C (c. 107
RT   A>G) mutation in ASAH1.";
RL   Stem Cell Res. 53:102387-102387(2021).
//