ID   GM09705
AC   CVCL_AA86
DR   CLO; CLO_0026596
DR   Coriell; GM09705
DR   Wikidata; Q54843971
RX   CelloPub=CLPUB00447;
RX   PubMed=33485181;
CC   Sequence variation: Mutation; HGNC; 12530; UGT1A1; Simple; p.Tyr293Metfs*69 (c.877_890delTACATTAATGCTTCinsA) (p.Tyr292Metfs, c.874_887delTACATTAATGCTTCinsA) (879 del 13); ClinVar=VCV000012266; Zygosity=Homozygous; Note=Allele UGT1A1*2 (from child cell line HHUUKDi005-A).
CC   Caution: Indicated as originating from a 1 year old female child in Coriell, but seems to contain both male and female cells (PubMed=33485181).
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)
SX   Mixed sex
AG   Age unspecified
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 10
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=33485181; DOI=10.1016/j.scr.2021.102167;
RA   Graffmann N., Martins S., Ljubikj T., Matte J.C., Bohndorf M.,
RA   Wruck W., Adjaye J.;
RT   "Generation of a Crigler-Najjar syndrome type I patient-derived
RT   induced pluripotent stem cell line CNS705 (HHUUKDi005-A).";
RL   Stem Cell Res. 51:102167-102167(2021).
//