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Cellosaurus XP1MI LCL (CVCL_F029)

[Text version]
Cell line name XP1MI LCL
Synonyms Xeroderma Pigmentosum 1 Miami LCL; GM02634
Accession CVCL_F029
Resource Identification Initiative To cite this cell line use: XP1MI LCL (RRID:CVCL_F029)
Comments Population: African American.
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.Pro334His (c.1001C>A); ClinVar=VCV000000253; Zygosity=Homozygous (from autologous cell line XP1MI 2).
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_U763 ! XP1MI 1
CVCL_7351 ! XP1MI 2
Sex of cell Female
Age at sampling 16Y
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; GM02634
Cell line databases/resources CLO; CLO_0015033
Encyclopedic resources Wikidata; Q54837594
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number17