ID   HT patient 1 line 1
AC   CVCL_WV77
SY   HT line 1
DR   Wikidata; Q94304149
RX   PubMed=20739751;
CC   Sequence variation: Mutation; HGNC; 3579; FAH; Simple; p.Val166Gly (c.497T>G) (553T>G); ClinVar=VCV000558415; Zygosity=Heterozygous (from parent cell line).
CC   Caution: While PubMed=20739751 does not specifically indicates that this cell line is derived from Coriell GM00286, the patient description and its mutation description are identical (up to the point of using the same obsolete cDNA position information).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C98641; Tyrosinemia type I
DI   ORDO; Orphanet_882; Tyrosinemia type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_L937 ! GM00286
SX   Male
AG   2M
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 30-01-24; Version: 10
//
RX   PubMed=20739751; DOI=10.1172/JCI43122; PMCID=PMC2929734;
RA   Rashid S.T., Corbineau S., Hannan N., Marciniak S.J., Miranda E.,
RA   Alexander G., Huang-Doran I., Griffin J.L., Ahrlund-Richter L.,
RA   Skepper J., Semple R., Weber A., Lomas D.A., Vallier L.;
RT   "Modeling inherited metabolic disorders of the liver using human
RT   induced pluripotent stem cells.";
RL   J. Clin. Invest. 120:3127-3136(2010).
//