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Cellosaurus GM22690 (CVCL_HL18)

[Text version]
Cell line name GM22690
Synonyms F-2111
Accession CVCL_HL18
Resource Identification Initiative To cite this cell line use: GM22690 (RRID:CVCL_HL18)
Comments Population: Caucasian; Circassian.
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.Thr1885fs (c.5653delA); Zygosity=Homozygous (PubMed=17632790).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_HL20 ! GM22692
Sex of cell Male
Age at sampling 6Y
Category Finite cell line
Publications

PubMed=17632790; DOI=10.1002/ajmg.a.31853
Alterman N., Fattal-Valevski A., Moyal L., Crawford T.O., Lederman H.M., Ziv Y., Shiloh Y.
Ataxia-telangiectasia: mild neurological presentation despite null ATM mutation and severe cellular phenotype.
Am. J. Med. Genet. A 143:1827-1834(2007)

Cross-references
Cell line collections (Providers) Coriell; GM22690
Encyclopedic resources Wikidata; Q54852734
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number11