Cellosaurus cell line IUFi001-A (CVCL

Cellosaurus IUFi001-A (CVCL_A0JU)

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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; HGNC:3438; ERCC6; Simple; p.Lys337Ter (c.1009A>T) (A1088T); ClinVar=VCV000550722; Zygosity=Heterozygous (PubMed=34271225).
Mutation; HGNC; 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

Category

Induced pluripotent stem cell

STR profile

Source(s): PubMed=34271225

Markers:

Amelogenin	X
CSF1PO	10,11
D1S1656	16
D2S1338	18,24
D3S1358	15,16
D5S818	10,12
D6S1043	17,19
D7S820	9,11
D8S1179	14,15
D12S391	18.3,20
D13S317	10,12
D16S539	12,13
D18S51	14,19
D19S433	13,14
D21S11	30,30.2
FGA	19,23
Penta D	10,15
Penta E	7,11
TH01	6,7
TPOX	8,11

Publications

PubMed=34271225; DOI=10.1016/j.scr.2021.102456
Soraia Martins, Inken Hacheney, Nadine Teichweyde, Barbara Hildebrandt, Jean Krutmann, Andrea Rossi;
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 creation

23-Sep-2021

Last entry update

19-Dec-2024

Version number