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Cellosaurus WG1101 (CVCL_XY53)

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Cell line name WG1101
Accession CVCL_XY53
Resource Identification Initiative To cite this cell line use: WG1101 (RRID:CVCL_XY53)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Population: Caucasian.
Miscellaneous: Cell line no longer available.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:795; ATM; Simple; p.Ala2067Glnfs*10 (c.6199_6347del149); Zygosity=Heterozygous (PubMed=8845835).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category Finite cell line
Publications

PubMed=8845835; DOI=10.1093/hmg/5.4.433
Shlomit Gilad, Rami Khosravi, Dganit Shkedy, Tamar Uziel, Yael Ziv, Kinneret Savitsky, Galit Rotman, Sara Smith, Luciana Chessa, Timothy J. Jorgensen, Reli Harnik ...Show all 23 authors... , Moshe Frydman, Ozden Sanal, Sima Portnoi, Zipora Goldwicz, Nicolaas G.J. Jaspers, Richard A. Gatti, Gilbert Marcel Lenoir, Martin Francis Lavin, Kouichi Tatsumi, Rolf-Dieter Wegner, Yosef Shiloh, Anat Bar-Shira; Show fewer authors
Predominance of null mutations in ataxia-telangiectasia.
Hum. Mol. Genet. 5:433-439(1996)

Cross-references
Encyclopedic resources Wikidata; Q98134888
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number9