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Cellosaurus XP24KY (CVCL_UH41)

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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
Yasuhiro Matsumura, Chikako Nishigori, Takashi Yagi, Sadao Imamura, Hiraku Takebe;
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
Anwaar Ahmad, Jacqueline Henriette Enzlin, Nikhil R. Bhagwat, Nils Wijgers, Anja Raams, Esther Appledoorn, Arjan F. Theil, Jan Hendrik Jozef Hoeijmakers, Wim Vermeulen, Nicolaas G.J. Jaspers, Orlando David Scharer, Laura J. Niedernhofer;
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