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Cellosaurus CS1AN-S3-G2 (CVCL_L472)

Cell line name CS1AN-S3-G2
Synonyms CS1AN.S3.G2; CS1-AN.S3.G2; CS1ANps3g2; GM16095; GM739(SV); GM739SV
Accession CVCL_L472
Resource Identification Initiative To cite this cell line use: CS1AN-S3-G2 (RRID:CVCL_L472)
Comments Population: Caucasian.
Transfected with: UniProtKB; P0A9M5; Escherichia coli gpt.
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) [Note=pSV3-gpt].
Omics: Transcriptome analysis by microarray.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 3438; ERCC6; Simple; p.Lys337Ter (c.1009A>T) (A1088T); ClinVar=VCV000550722; Zygosity=Hemizygous (PubMed=1339317).
Disease Cockayne syndrome type B (NCIt: C135726)
Cockayne syndrome (ORDO: Orphanet_191)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_L471 (CS1AN)
Sex of cell Female
Age at sampling 3Y
Category Transformed cell line
STR profile Source(s): JCRB

Markers:
AmelogeninX
CSF1PO10,11
D5S81810,12
D7S8209,11
D13S31710,12
D16S53912,13
TH016,7
TPOX8,11
vWA17,19

Run an STR similarity search on this cell line
Publications

PubMed=3002824; DOI=10.1016/0014-4827(86)90356-3
Mayne L.V., Priestley A., James M.R., Burke J.F.
Efficient immortalization and morphological transformation of human fibroblasts by transfection with SV40 DNA linked to a dominant marker.
Exp. Cell Res. 162:530-538(1986)

PubMed=1339317; DOI=10.1016/0092-8674(92)90390-x
Troelstra C., van Gool A., de Wit J., Vermeulen W., Bootsma D., Hoeijmakers J.H.J.
ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes.
Cell 71:939-953(1992)

PubMed=7664335; DOI=10.1016/0092-8674(95)90028-4
Henning K.A., Li L., Iyer N., McDaniel L.D., Reagan M.S., Legerski R.J., Schultz R.A., Stefanini M., Lehmann A.R., Mayne L.V., Friedberg E.C.
The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH.
Cell 82:555-564(1995)

Cross-references
Cell line collections (Providers) Coriell; GM16095
JCRB; JCRB3022
JCRB; KURB1911 - Discontinued
Encyclopedic resources Wikidata; Q54848319
Gene expression databases GEO; GSM3048742
GEO; GSM3048743
GEO; GSM3048744
GEO; GSM3048745
Entry history
Entry creation06-May-2013
Last entry update05-Oct-2023
Version number17