ID   HHUUKDi005-A
AC   CVCL_WJ48
SY   CNS705
DR   hPSCreg; HHUUKDi005-A
DR   Wikidata; Q94207200
RX   PubMed=33485181;
CC   From: Heinrich-Heine-Universitat Dusseldorf; Dusseldorf; Germany.
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 (PubMed=33485181).
CC   Caution: The parent fibroblast seem to contain both male and female cells but the iPSC cells seem to be derived from the male 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)
HI   CVCL_AA86 ! GM09705
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 29-06-23; Version: 6
//
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).
//