ID   IUFi001-A
AC   CVCL_A0JU
SY   IUFi001
DR   BioSamples; SAMEA9273536
DR   hPSCreg; IUFi001-A
DR   Wikidata; Q108820552
RX   PubMed=34271225;
CC   From: Leibniz Research Institute For Environmental Medicine; Dusseldorf; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3438; ERCC6; Simple; p.Lys337Ter (c.1009A>T) (A1088T); ClinVar=VCV000550722; Zygosity=Heterozygous (PubMed=34271225).
CC   Sequence variation: Mutation; HGNC; 3438; ERCC6; Simple; p.Arg857Ter (c.2569C>T); ClinVar=VCV000553383; Zygosity=Heterozygous (PubMed=34271225).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=34271225
ST   Amelogenin: X
ST   CSF1PO: 10,11
ST   D12S391: 18.3,20
ST   D13S317: 10,12
ST   D16S539: 12,13
ST   D18S51: 14,19
ST   D19S433: 13,14
ST   D1S1656: 16
ST   D21S11: 30,30.2
ST   D2S1338: 18,24
ST   D3S1358: 15,16
ST   D5S818: 10,12
ST   D6S1043: 17,19
ST   D7S820: 9,11
ST   D8S1179: 14,15
ST   FGA: 19,23
ST   Penta D: 10,15
ST   Penta E: 7,11
ST   TH01: 6,7
ST   TPOX: 8,11
DI   NCIt; C135726; Cockayne syndrome type B
DI   ORDO; Orphanet_191; Cockayne syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_L471 ! CS1AN
SX   Female
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=34271225; DOI=10.1016/j.scr.2021.102456;
RA   Martins S., Hacheney I., Teichweyde N., Hildebrandt B., Krutmann J.,
RA   Rossi A.;
RT   "Generation of an induced pluripotent stem cell line (IUFi001) from a
RT   Cockayne syndrome patient carrying a mutation in the ERCC6 gene.";
RL   Stem Cell Res. 55:102456-102456(2021).
//