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Cellosaurus CS2AW (CVCL_2879)

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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; 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=JCRB0310

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

Run an STR similarity search on this cell line
Publications

DOI=10.11251/ojjscn1969.10.465
Toshiaki Hashimoto, Kyoichi Hiura, Yoshiko Kobayashi, Noboru Kawano, Tamio Takahashi, Shoichi Endo, Kuniaki Fukuda;
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
Yan Ren, Masafumi Saijo, Yoshimichi Nakatsu, Hiroshi Nakai, Masaru Yamaizumi, Kiyoji Tanaka;
Three novel mutations responsible for Cockayne syndrome group A.
Genes Genet. Syst. 78:93-102(2003)

PubMed=22466610; DOI=10.1038/ng.2229
Yuka Nakazawa, Kensaku Sasaki, Norisato Mitsutake, Michiko Matsuse, Mayuko Shimada, Tiziana Nardo, Yoshito Takahashi, Kaname Ohyama, Kosei Ito, Hiroyuki Mishima, Masayo Nomura ...Show all 24 authors... , Akira Kinoshita, Shinji Ono, Katsuya Takenaka, Ritsuko Masuyama, Takashi Kudo, Hanoch Slor, Atsushi Utani, Satoshi Tateishi, Shunichi Yamashita, Miria Stefanini, Alan Robert Lehmann, Koh-ichiro Yoshiura, Tomoo Ogi; Show fewer authors
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 update19-Dec-2024
Version number18