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Cellosaurus XP30BE LCL (CVCL_M291)

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Cell line name XP30BE LCL
Synonyms Xeroderma Pigmentosum 30 BEthesda LCL; GM05791
Accession CVCL_M291
Resource Identification Initiative To cite this cell line use: XP30BE LCL (RRID:CVCL_M291)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:12816; XPC; Simple; p.Gln368Argfs*6 (c.1103_1104delAA) (delAA1208-1209); ClinVar=VCV000267279; Zygosity=Heterozygous (Coriell=GM05791).
  • Mutation; HGNC; HGNC:12816; XPC; Simple; p.Val548Alafs*25 (c.1639_1640TG[2]) (c.1643_1644delTG) (1744_1745delTG); ClinVar=VCV000000262; Zygosity=Heterozygous (Coriell=GM05791).
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_M292 ! XP30BE
Sex of cell Male
Age at sampling Age unspecified
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM05791
Cell line databases/resources CLO; CLO_0024663
Encyclopedic resources Wikidata; Q54841939
Entry history
Entry creation05-Nov-2013
Last entry update19-Dec-2024
Version number19