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Cellosaurus XP35OS (CVCL_3247)

[Text version]
Cell line name XP35OS
Synonyms Xeroderma Pigmentosum 35 OSaka
Accession CVCL_3247
Resource Identification Initiative To cite this cell line use: XP35OS (RRID:CVCL_3247)
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:12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=1702221).
Disease Xeroderma pigmentosum, complementation group A (NCIt: C3965)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_4Y31 (XP35OS(SVT))
Sex of cell Female
Age at sampling 13Y
Category Finite cell line
STR profile Source(s): JCRB=JCRB0304

Markers:
AmelogeninX
CSF1PO9,12
D5S81811,13
D7S82010,11
D13S3179,10
D16S5399,10
TH019
TPOX8
vWA14,17

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Publications

PubMed=3814505; DOI=10.1111/j.1365-2133.1987.tb05796.x
Sato K., Watatani M., Ikenaga M., Kozuka T., Kitano Y., Yoshikawa K., Mimaki T., Abe J., Sugita T.
Sensitivity to UV radiation of fibroblasts from a Japanese group A xeroderma pigmentosum patient with mild neurological abnormalities.
Br. J. Dermatol. 116:101-108(1987)

PubMed=2570806; DOI=10.1111/1523-1747.ep12284030
Chang H.-R., Ishizaki K., Sasaki M.S., Toguchida J., Kato M., Nakamura Y., Kawamura S., Moriguchi T., Ikenaga M.
Somatic mosaicism for DNA repair capacity in fibroblasts derived from a group A xeroderma pigmentosum patient.
J. Invest. Dermatol. 93:460-465(1989)

PubMed=1702221; DOI=10.1073/pnas.87.24.9908; PMCID=PMC55283
Satokata I., Tanaka K., Miura N., Miyamoto I., Satoh Y., Kondo S., Okada Y.
Characterization of a splicing mutation in group A xeroderma pigmentosum.
Proc. Natl. Acad. Sci. U.S.A. 87:9908-9912(1990)

PubMed=1372102; DOI=10.1016/0921-8777(92)90080-M
Satokata I., Tanaka K., Miura N., Narita M., Mimaki T., Satoh Y., Kondo S., Okada Y.
Three nonsense mutations responsible for group A xeroderma pigmentosum.
Mutat. Res. 273:193-202(1992)

Cross-references
Cell line collections (Providers) JCRB; JCRB0304
JCRB; KURB1164
JCRB; KURB1344
JCRB; KURB1345
Encyclopedic resources Wikidata; Q54994919
Entry history
Entry creation04-Apr-2012
Last entry update19-Dec-2024
Version number19