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Cellosaurus XP24KY (CVCL_UH41)

[Text version]
Cell line name XP24KY
Synonyms Xeroderma Pigmentosum 24 KYoto
Accession CVCL_UH41
Resource Identification Initiative To cite this cell line use: XP24KY (RRID:CVCL_UH41)
Comments Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Arg454Trp (c.1360A>T) (R443W); Zygosity=Heterozygous (PubMed=9580660).
  • Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Asn537Argfs*8 (c.1608_1617del); Zygosity=Heterozygous (PubMed=9580660).
Disease Xeroderma pigmentosum, complementation group F (NCIt: C3968)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 48Y
Category Finite cell line
STR profile Source(s): JCRB=JCRB3074

Markers:
AmelogeninX,Y
CSF1PO10
D5S81810,13
D7S82010,11
D13S3178,10
D16S5399,12
TH019
TPOX8,11
vWA18,19

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Publications

PubMed=9580660; DOI=10.1093/hmg/7.6.969
Matsumura Y., Nishigori C., Yagi T., Imamura S., Takebe H.
Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms.
Hum. Mol. Genet. 7:969-974(1998)

PubMed=20221251; DOI=10.1371/journal.pgen.1000871; PMCID=PMC2832669
Ahmad A., Enzlin J.H., Bhagwat N.R., Wijgers N., Raams A., Appledoorn E., Theil A.F., Hoeijmakers J.H.J., Vermeulen W., Jaspers N.G.J., Scharer O.D., Niedernhofer L.J.
Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients.
PLoS Genet. 6:e1000871.1-e1000871.11(2010)

Cross-references
Cell line collections (Providers) JCRB; JCRB3074
JCRB; KURB1089 - Discontinued
Encyclopedic resources Wikidata; Q98135578
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number11