ID   CS1AN-S3-G2
AC   CVCL_L472
SY   CS1AN.S3.G2; CS1-AN.S3.G2; CS1ANps3g2; GM16095; GM739(SV); GM739SV
DR   Coriell; GM16095
DR   GEO; GSM3048742
DR   GEO; GSM3048743
DR   GEO; GSM3048744
DR   GEO; GSM3048745
DR   JCRB; JCRB3022
DR   JCRB; KURB1911
DR   Wikidata; Q54848319
RX   PubMed=1339317;
RX   PubMed=3002824;
RX   PubMed=7664335;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3438; ERCC6; Simple; p.Lys337Ter (c.1009A>T) (A1088T); ClinVar=VCV000550722; Zygosity=Hemizygous (PubMed=1339317).
CC   Transfected with: UniProtKB; P0A9M5; Escherichia coli gpt.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) [Note=pSV3-gpt].
CC   Omics: Transcriptome analysis by microarray.
CC   Discontinued: JCRB; KURB1911; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB3022
ST   Amelogenin: X
ST   CSF1PO: 10,11
ST   D13S317: 10,12
ST   D16S539: 12,13
ST   D5S818: 10,12
ST   D7S820: 9,11
ST   TH01: 6,7
ST   TPOX: 8,11
ST   vWA: 17,19
DI   NCIt; C135726; Cockayne syndrome type B
DI   ORDO; Orphanet_191; Cockayne syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_L471 ! CS1AN
SX   Female
AG   3Y
CA   Transformed cell line
DT   Created: 06-05-13; Last updated: 02-05-24; Version: 18
//
RX   PubMed=1339317; DOI=10.1016/0092-8674(92)90390-x;
RA   Troelstra C., van Gool A., de Wit J., Vermeulen W., Bootsma D.,
RA   Hoeijmakers J.H.J.;
RT   "ERCC6, a member of a subfamily of putative helicases, is involved in
RT   Cockayne's syndrome and preferential repair of active genes.";
RL   Cell 71:939-953(1992).
//
RX   PubMed=3002824; DOI=10.1016/0014-4827(86)90356-3;
RA   Mayne L.V., Priestley A., James M.R., Burke J.F.;
RT   "Efficient immortalization and morphological transformation of human
RT   fibroblasts by transfection with SV40 DNA linked to a dominant
RT   marker.";
RL   Exp. Cell Res. 162:530-538(1986).
//
RX   PubMed=7664335; DOI=10.1016/0092-8674(95)90028-4;
RA   Henning K.A., Li L., Iyer N., McDaniel L.D., Reagan M.S., Legerski R.J.,
RA   Schultz R.A., Stefanini M., Lehmann A.R., Mayne L.V., Friedberg E.C.;
RT   "The Cockayne syndrome group A gene encodes a WD repeat protein that
RT   interacts with CSB protein and a subunit of RNA polymerase II TFIIH.";
RL   Cell 82:555-564(1995).
//