Home  |  Contact

Cellosaurus IUFi001-A (CVCL_A0JU)

[Text version]

Cell line name IUFi001-A
Synonyms IUFi001
Accession CVCL_A0JU
Resource Identification Initiative To cite this cell line use: IUFi001-A (RRID:CVCL_A0JU)
Comments From: Leibniz Research Institute For Environmental Medicine; Dusseldorf; Germany.
Population: Caucasian.
Derived from sampling site: Skin.
Sequence variations Mutation; HGNC; 3438; ERCC6; Simple; p.Lys337Ter (c.1009A>T) (A1088T); ClinVar=VCV000550722; Zygosity=Heterozygous (PubMed=34271225).
Mutation; HGNC; 3438; ERCC6; Simple; p.Arg857Ter (c.2569C>T); ClinVar=VCV000553383; Zygosity=Heterozygous (PubMed=34271225).
Disease Cockayne syndrome type B (NCIt: C135726)
Cockayne syndrome (ORDO: Orphanet_191)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_L471 (CS1AN)
Sex of cell Female
Age at sampling 3Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=34271225

Markers:
AmelogeninX
CSF1PO10,11
D1S165616
D2S133818,24
D3S135815,16
D5S81810,12
D6S104317,19
D7S8209,11
D8S117914,15
D12S39118.3,20
D13S31710,12
D16S53912,13
D18S5114,19
D19S43313,14
D21S1130,30.2
FGA19,23
Penta D10,15
Penta E7,11
TH016,7
TPOX8,11

Run an STR similarity search on this cell line
Publications

PubMed=34271225; DOI=10.1016/j.scr.2021.102456
Martins S., Hacheney I., Teichweyde N., Hildebrandt B., Krutmann J., Rossi A.
Generation of an induced pluripotent stem cell line (IUFi001) from a Cockayne syndrome patient carrying a mutation in the ERCC6 gene.
Stem Cell Res. 55:102456-102456(2021)

Cross-references
Cell line databases/resources hPSCreg; IUFi001-A
Biological sample resources BioSamples; SAMEA9273536
Entry history
Entry creation23-Sep-2021
Last entry update23-Sep-2021
Version number1