ID   XP202DC
AC   CVCL_ZP22
DR   Wikidata; Q98135502
RX   CelloPub=CLPUB00562;
CC   Sequence variation: Mutation; HGNC; HGNC:3433; ERCC1; Simple; c.604-26G>A; Zygosity=Heterozygous (CelloPub=CLPUB00562).
CC   Sequence variation: Mutation; HGNC; HGNC:3433; ERCC1; Simple; p.Lys226Ter (c.676A>T); ClinVar=VCV000264678; Zygosity=Heterozygous (CelloPub=CLPUB00562).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3452; Xeroderma pigmentosum
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   15-37Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
//
RX   CelloPub=CLPUB00562;
RA   Imoto K., Boyle J., Oh K.-S., Khan S.G., Ueda T., Nadem C., Slor H.,
RA   Orgal S., Gadoth N., Busch D.B., Jaspers N.G.J., Tamura D.,
RA   DiGiovanna J.J., Kraemer K.H.;
RT   "Patients with defects in the interacting nucleotide excision repair
RT   proteins ERCC1 or XPF show xeroderma pigmentosum with late onset severe
RT   neurological degeneration.";
RL   J. Invest. Dermatol. 127 Suppl. 1:S92-S92(2007).
//