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Cellosaurus XP3KR (CVCL_L777)

[Text version]

Cell line name XP3KR
Synonyms GM05292; GM5292
Accession CVCL_L777
Resource Identification Initiative To cite this cell line use: XP3KR (RRID:CVCL_L777)
Comments Population: Japanese.
Miscellaneous: Established from monozygotic twin of XP4KR (CVCL_ZQ22).
Derived from sampling site: Skin.
Sequence variations Heterozygous for XPA c.390-1G>C (IVS3-1G>C) (ClinVar=VCV000264684); splice acceptor mutation and p.Arg228Ter (c.682C>T) (ClinVar=VCV000000995) (PubMed=1372102; PubMed=7905727; PubMed=9671271).
Disease Xeroderma pigmentosum, complementation group A (NCIt: C3965)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 8Y
Category Finite cell line
STR profile Source(s): JCRB

Markers:
AmelogeninX
CSF1PO11,12
D5S81813
D7S8209,12
D13S3178
D16S5399
TH016
TPOX8,11
vWA19

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Publications

PubMed=1702221; DOI=10.1073/pnas.87.24.9908
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)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

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)

PubMed=7905727; DOI=10.1001/archderm.1994.01690020057009
Nishigori C., Moriwaki S., Takebe H., Tanaka T., Imamura S.
Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan.
Arch. Dermatol. 130:191-197(1994)

PubMed=9671271; DOI=10.1002/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6
States J.C., McDuffie E.R., Myrand S.P., McDowell M., Cleaver J.E.
Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.
Hum. Mutat. 12:103-113(1998)

Cross-references
Cell line collections Coriell; GM05292
JCRB; JCRB3044
JCRB; KURB1031
Ontologies CLO; CLO_0024952
Other Wikidata; Q54838957
Entry history
Entry creation06-May-2013
Last entry update02-Jul-2020
Version number13