ID   TYR1-hiPSC6
AC   CVCL_C366
SY   TYR.1.H.iPSC.6
DR   RSCB; RSCB0072
DR   Wikidata; Q54973484
RX   PubMed=20821352;
CC   From: Royan Institute; Theran; Iran.
CC   Population: Iranian.
CC   Sequence variation: Mutation; HGNC; 3579; FAH; Simple; p.Gln64His (c.192G>T); ClinVar=VCV000021054; Zygosity=Unspecified (PubMed=20821352).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
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)
OI   CVCL_C361 ! TYR1-hiPSC1
OI   CVCL_C362 ! TYR1-hiPSC2
OI   CVCL_C363 ! TYR1-hiPSC3
OI   CVCL_C364 ! TYR1-hiPSC4
OI   CVCL_C365 ! TYR1-hiPSC5
OI   CVCL_C367 ! TYR1-hiPSC7
SX   Female
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 22-10-12; Last updated: 29-06-23; Version: 14
//
RX   PubMed=20821352; DOI=10.1007/s12015-010-9189-3;
RA   Ghodsizadeh A., Taei A., Totonchi M., Seifinejad A., Gourabi H.,
RA   Pournasr B., Aghdami N., Malekzadeh R., Almadani N., Salekdeh G.H.,
RA   Baharvand H.;
RT   "Generation of liver disease-specific induced pluripotent stem cells
RT   along with efficient differentiation to functional hepatocyte-like
RT   cells.";
RL   Stem Cell Rev. Rep. 6:622-632(2010).
//