ID   CS9IAF
AC   CVCL_ZT20
DR   Wikidata; Q98125781
RX   PubMed=29572252;
CC   Population: Arab.
CC   Sequence variation: Mutation; HGNC; HGNC:3439; ERCC8; Simple; p.Tyr322Ter (c.966C>A); ClinVar=VCV000001715; Zygosity=Homozygous (PubMed=29572252).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C135725; Cockayne syndrome type A
DI   ORDO; Orphanet_191; Cockayne syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=29572252; DOI=10.1136/jmedgenet-2017-104877;
RA   Calmels N., Botta E., Jia N., Fawcett H., Nardo T., Nakazawa Y.,
RA   Lanzafame M., Moriwaki S., Sugita K., Kubota M., Obringer C.,
RA   Spitz M.-A., Stefanini M., Laugel V., Orioli D., Ogi T., Lehmann A.R.;
RT   "Functional and clinical relevance of novel mutations in a large
RT   cohort of patients with Cockayne syndrome.";
RL   J. Med. Genet. 55:329-343(2018).
//