ID   XPH104BE LCL
AC   CVCL_1F62
SY   Xeroderma Pigmentosum Heterozygote 104 BEthesda LCL; GM16464
DR   CLO; CLO_0017823
DR   Coriell; GM16464
DR   Wikidata; Q54848580
RX   PubMed=12060391;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Gln136Ter (c.406C>T) (C603T); ClinVar=VCV000016578; Zygosity=Heterozygous (PubMed=12060391).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Adult
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 12
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RX   PubMed=12060391; DOI=10.1046/j.1523-1747.2002.01782.x;
RA   Emmert S., Slor H., Busch D.B., Batko S., Albert R.B., Coleman D.M.,
RA   Khan S.G., Abu-Libdeh B., DiGiovanna J.J., Cunningham B.B., Lee M.-M.,
RA   Crollick J., Inui H., Ueda T., Hedayati M., Grossman L., Shahlavi T.,
RA   Cleaver J.E., Kraemer K.H.;
RT   "Relationship of neurologic degeneration to genotype in three
RT   xeroderma pigmentosum group G patients.";
RL   J. Invest. Dermatol. 118:972-982(2002).
//