Cellosaurus cell line F07/402 (CVCL

Cellosaurus F07/402 (CVCL_WX38)

[Text version]

Cell line name

F07/402

Accession

CVCL_WX38

Resource Identification Initiative

To cite this cell line use: F07/402 (RRID:CVCL_WX38)

Comments

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

Sequence variations

Mutation; HGNC; HGNC:25737; NHEJ1; Simple; p.Arg57Ter (c.169C>T); ClinVar=VCV001323363; Zygosity=Homozygous (PubMed=19056826; PubMed=23818183).

Disease

Severe combined immunodeficiency due to NHEJ1 deficiency (NCIt: C162695)
Cernunnos-XLF deficiency (ORDO: Orphanet_169079)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_WX39 (F07/402-iPSC)

Sex of cell

Male

Age at sampling

Category

Finite cell line

STR profile

Source(s): PubMed=23818183

Markers:

Amelogenin	X,Y
CSF1PO	11
D3S1358	16,17
D5S818	11
D7S820	11
D8S1179	14,16
D13S317	9,13
D16S539	11,12
D18S51	10,20
D21S11	30.2,31
FGA	21,25
Penta D	9
Penta E	15
TH01	6,10
TPOX	8,11
vWA	17

Publications

PubMed=19056826; DOI=10.1093/nar/gkn957; PMCID=PMC2632933
Riballo E., Woodbine L., Stiff T., Walker S.A., Goodarzi A.A., Jeggo P.A.
XLF-Cernunnos promotes DNA ligase IV-XRCC4 re-adenylation following ligation.
Nucleic Acids Res. 37:482-492(2009)

PubMed=23818183; DOI=10.1002/stem.1456
Tilgner K., Neganova I.E., Singhapol C., Saretzki G., Al-Aama J.Y., Evans J., Gorbunova V., Gennery A.R., Przyborski S., Stojkovic M., Armstrong L., Jeggo P.A., Lako M.
Brief report: a human induced pluripotent stem cell model of cernunnos deficiency reveals an important role for XLF in the survival of the primitive hematopoietic progenitors.
Stem Cells 31:2015-2023(2013)

Cross-references

Encyclopedic resources

Wikidata; Q93547672

Entry history

Entry creation

06-Sep-2019

Last entry update

19-Dec-2024

Version number