Cellosaurus logo
expasy logo

Cellosaurus XP30BE (CVCL_M292)

[Text][XML][JSON]
Cell line name XP30BE
Synonyms Xeroderma Pigmentosum 30 BEthesda; GM05792; KR05792
Accession CVCL_M292
Resource Identification Initiative To cite this cell line use: XP30BE (RRID:CVCL_M292)
Comments Population: Caucasian.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12816; XPC; Simple; p.Gln368Argfs*6 (c.1103_1104delAA) (delAA1208-1209); ClinVar=VCV000267279; Zygosity=Heterozygous (Coriell=GM05792).
  • Mutation; HGNC; HGNC:12816; XPC; Simple; p.Val548Alafs*25 (c.1639_1640TG[2]) (c.1643_1644delTG) (1744_1745delTG); ClinVar=VCV000000262; Zygosity=Heterozygous (Coriell=GM05792).
Disease Xeroderma pigmentosum, complementation group C (NCIt: C114770)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_M291 ! XP30BE LCL
Sex of cell Male
Age at sampling Age unspecified
Category Finite cell line
Publications

PubMed=16081512; DOI=10.1093/carcin/bgi204
Sikandar G. Khan, Kyu-Seon Oh, Tala Shahlavi, Takahiro Ueda, David B. Busch, Hiroki Inui, Steffen Emmert, Kyoko Imoto, Vanessa Muniz-Medina, Carl C. Baker, John Joseph DiGiovanna ...Show all 18 authors... , Deborah Schmidt, Arash Khadavi, Ahmet Metin, Engin Mevlut Gozukara, Hanoch Slor, Alain Sarasin, Kenneth H. Kraemer; Show fewer authors
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
Carcinogenesis 27:84-94(2006)

Cross-references
Cell line collections (Providers) Coriell; GM05792
Cell line databases/resources CLO; CLO_0024688
Encyclopedic resources Wikidata; Q54841940
Entry history
Entry creation05-Nov-2013
Last entry update19-Dec-2024
Version number19