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Cellosaurus F07/402-iPSC (CVCL_WX39)

[Text version]
Cell line name F07/402-iPSC
Synonyms F07/402 iPSC
Accession CVCL_WX39
Resource Identification Initiative To cite this cell line use: F07/402-iPSC (RRID:CVCL_WX39)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
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 Parent: CVCL_WX38 (F07/402)
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=23818183

Markers:
AmelogeninX,Y
CSF1PO11
D3S135816,17
D5S81811
D7S82011
D8S117914,16
D13S3179,13
D16S53911,12
D18S5110,20
D21S1130.2,31
FGA21,25
Penta D9
Penta E15
TH016,10
TPOX8,11
vWA17

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Publications

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; Q93547679
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number10