ID   CS1AW
AC   CVCL_M677
DR   JCRB; KURB1895
DR   Wikidata; Q54814530
RX   DOI=10.11251/ojjscn1969.10.465;
RX   PubMed=6481688;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3439; ERCC8; Simple; p.Asp93Leufs*26 (Ex4del); Zygosity=Homozygous (from familial inference of CS2AW).
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   Female
AG   7Y
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 19-12-24; Version: 13
//
RX   DOI=10.11251/ojjscn1969.10.465;
RA   Hashimoto T., Hiura K., Kobayashi Y., Kawano N., Takahashi T.,
RA   Endo S., Fukuda K.;
RT   "Cockayne's syndrome: report of two sisters and review of literature in
RT   Japan.";
RL   No To Hattatsu 10:465-472(1978).
//
RX   PubMed=6481688; DOI=10.1269/jrr.25.150;
RA   Watatani M., Ohtani H., Takai S.-i., Ikenaga M.;
RT   "Host cell reactivation of ultraviolet light irradiated adenovirus 5
RT   in fibroblasts from patients with Cockayne syndrome: a study with six
RT   Japanese cases.";
RL   J. Radiat. Res. 25:150-159(1984).
//