ID   AG07075
AC   CVCL_0N64
DR   CLO; CLO_0035649
DR   Coriell; AG07075
DR   Wikidata; Q54740529
RX   CelloPub=CLPUB00597;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3439; ERCC8; Simple; p.Glu13Ter (c.37G>T); ClinVar=VCV000001716; Zygosity=Heterozygous (Coriell=AG07075).
CC   Sequence variation: Mutation; HGNC; HGNC:3439; ERCC8; Simple; p.Ala205Pro (c.613G>C); ClinVar=VCV000001718; Zygosity=Heterozygous (Coriell=AG07075).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C135725; Cockayne syndrome type A
DI   ORDO; Orphanet_191; Cockayne syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_0N65 ! AG07076
SX   Female
AG   10Y10M
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 15
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RX   CelloPub=CLPUB00597;
RG   National Institute on Aging;
RT   "1994 catalog of cell lines. NIA Aging Cell Repository.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994).
//