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Cellosaurus GM04312 (CVCL_F510)

[Text version]

Cell line name GM04312
Synonyms GM4312; GM04312A; GM04312B; XP20S; XP2OS
Accession CVCL_F510
Resource Identification Initiative To cite this cell line use: GM04312 (RRID:CVCL_F510)
Comments Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
Sequence variations Homozygous for XPA c.507-1G>C (IVS3-1G>C); splice acceptor mutation (Coriell).
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_F509 (GM15876)CVCL_3242 (XP2OS(SV))
Originate from same individual CVCL_F512 ! GM02345
Sex of cell Female
Age at sampling 7Y
Category Transformed cell line
STR profile Source(s): JCRB

Markers:
AmelogeninX
CSF1PO10,11
D5S81810,11
D7S8208,12
D13S3179
D16S5399,12
TH016,9
TPOX11
vWA14,16

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Publications

PubMed=2039995
Yagi T., Tatsumi-Miyajima J., Sato M., Kraemer K.H., Takebe H.
Analysis of point mutations in an ultraviolet-irradiated shuttle vector plasmid propagated in cells from Japanese xeroderma pigmentosum patients in complementation groups A and F.
Cancer Res. 51:3177-3182(1991)

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)

Cross-references
Cell line collections Coriell; GM04312
JCRB; JCRB3048
JCRB; KURB1007
Ontologies CLO; CLO_0019549
Other Wikidata; Q54838478
Entry history
Entry creation11-Feb-2013
Last entry updated12-Mar-20
Version number15