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Cellosaurus XPEMB-1 (CVCL_3252)

[Text version]
Cell line name XPEMB-1
Synonyms XPEMB1; Xeroderma Pigmentosum EMBryo-1
Accession CVCL_3252
Resource Identification Initiative To cite this cell line use: XPEMB-1 (RRID:CVCL_3252)
Comments Omics: Deep exome analysis.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=1702221; PubMed=27197874).
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_RX70 (XPEMB-1 iPS)
Sex of cell Sex unspecified
Age at sampling Fetus
Category Finite cell line
STR profile Source(s): JCRB=JCRB0325

Markers:
AmelogeninX
CSF1PO10,11
D5S81811,12
D7S82011,14
D13S31711,13
D16S53911,12
TH017,9
TPOX8,9
vWA18

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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)

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=27197874; DOI=10.1038/srep26342
Okamura K., Sakaguchi H., Sakamoto-Abutani R., Nakanishi M., Nishimura K., Yamazaki-Inoue M., Ohtaka M., Periasamy V.S., Alshatwi A.A., Higuchi A., Hanaoka K., Nakabayashi K., Takada S., Hata K., Toyoda M., Umezawa A.
Distinctive features of single nucleotide alterations in induced pluripotent stem cells with different types of DNA repair deficiency disorders.
Sci. Rep. 6:26342-26342(2016)

Cross-references
Cell line collections (Providers) JCRB; JCRB0325
Encyclopedic resources Wikidata; Q54994981
Gene expression databases GEO; GSM1338615
Entry history
Entry creation04-Apr-2012
Last entry update02-May-2024
Version number18