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Cellosaurus XP19BE LCL (CVCL_H144)

[Text version]
Cell line name XP19BE LCL
Synonyms Xeroderma Pigmentosum 19 BEthesda LCL; XP1WI LCL; GM02344; GM-2344; GM02344A
Accession CVCL_H144
Resource Identification Initiative To cite this cell line use: XP19BE LCL (RRID:CVCL_H144)
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:12814; XPA; Simple; p.Gln185His (c.555G>C); ClinVar=VCV000550646; Zygosity=Homozygous; Note=Also produces mis-splicing (Coriell=GM02344).
Disease Xeroderma pigmentosum, complementation group A (NCIt: C3965)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_H143 ! XP19BE
Sex of cell Male
Age at sampling 3Y6M
Category Transformed cell line
Publications

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

Cross-references
Cell line collections (Providers) Coriell; GM02344
Cell line databases/resources CLO; CLO_0033114
Biological sample resources BioSample; SAMN00807725
Encyclopedic resources Wikidata; Q54837451
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number20