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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 site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
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

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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
Encyclopedic resources Wikidata; Q108820552
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number5