ID   CN patient 1 line 2
AC   CVCL_WV71
DR   Wikidata; Q93455835
RX   PubMed=20739751;
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; HGNC:12530; UGT1A1; Simple; p.Tyr293Metfs*69 (c.877_890delTACATTAATGCTTCinsA) (p.Tyr292Metfs, c.874_887delTACATTAATGCTTCinsA) (879 del 13); ClinVar=VCV000012266; Zygosity=Homozygous (PubMed=20739751).
CC   Caution: While PubMed=20739751 does not specifically indicates that this cell line is derived from Coriell GM09551, the patient description and its mutation description are identical.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84656; Crigler-Najjar syndrome
DI   ORDO; Orphanet_205; Crigler-Najjar syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_AA80 ! GM09551
SX   Male
AG   2M
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 19-12-24; Version: 11
//
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).
//