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Cellosaurus CS2AW (CVCL_2879)

[Text version]
Cell line name CS2AW
Accession CVCL_2879
Resource Identification Initiative To cite this cell line use: CS2AW (RRID:CVCL_2879)
Comments Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 3439; ERCC8; Simple; p.Asp93Leufs*26 (Ex4del); Zygosity=Homozygous (PubMed=12655141).
Disease Cockayne syndrome type A (NCIt: C135725)
Cockayne syndrome (ORDO: Orphanet_191)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_YX95 (CS2AW(SVT))CVCL_2880 (CS2AWTERT)
Sex of cell Female
Age at sampling 4Y
Category Finite cell line
STR profile Source(s): JCRB

Markers:
AmelogeninX
CSF1PO10,13
D5S81811,13
D7S82011
D13S31710,12
D16S5399,10
TH017,10
TPOX11
vWA14,17

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Publications

DOI=10.11251/ojjscn1969.10.465
Hashimoto T., Hiura K., Kobayashi Y., Kawano N., Takahashi T., Endo S., Fukuda K.
Cockayne's syndrome: report of two sisters and review of literature in Japan.
No To Hattatsu 10:465-472(1978)

PubMed=12655141; DOI=10.1266/ggs.78.93
Ren Y., Saijo M., Nakatsu Y., Nakai H., Yamaizumi M., Tanaka K.
Three novel mutations responsible for Cockayne syndrome group A.
Genes Genet. Syst. 78:93-102(2003)

PubMed=22466610; DOI=10.1038/ng.2229
Nakazawa Y., Sasaki K., Mitsutake N., Matsuse M., Shimada M., Nardo T., Takahashi Y., Ohyama K., Ito K., Mishima H., Nomura M., Kinoshita A., Ono S., Takenaka K., Masuyama R., Kudo T., Slor H., Utani A., Tateishi S., Yamashita S., Stefanini M., Lehmann A.R., Yoshiura K.-i., Ogi T.
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
Nat. Genet. 44:586-592(2012)

Cross-references
Cell line collections (Providers) JCRB; JCRB0310
JCRB; KURB1889
Biological sample resources BioSample; SAMN03471618
Encyclopedic resources Wikidata; Q54814538
Entry history
Entry creation04-Apr-2012
Last entry update29-Jun-2023
Version number16