ID   XP1MI LCL
AC   CVCL_F029
SY   Xeroderma Pigmentosum 1 Miami LCL; GM02634
DR   CLO; CLO_0015033
DR   Coriell; GM02634
DR   Wikidata; Q54837594
RX   CelloPub=CLPUB00447;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Pro334His (c.1001C>A); ClinVar=VCV000000253; Zygosity=Homozygous (from autologous cell line XP1MI 2).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C114770; Xeroderma pigmentosum, complementation group C
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_U763 ! XP1MI 1
OI   CVCL_7351 ! XP1MI 2
SX   Female
AG   16Y
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 19-12-24; Version: 17
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//