Cellosaurus cell line GM22690 (CVCL

Cross-references
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.Thr1885Profs*32 (c.5653delA); ClinVar=VCV003721088; 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 Neora Alterman, Aviva Fattal-Valevski, Lilach Moyal, Thomas Owen Crawford, Howard Mark Lederman, Yael Ziv, Yosef Shiloh; Ataxia-telangiectasia: mild neurological presentation despite null ATM mutation and severe cellular phenotype. Am. J. Med. Genet. A 143:1827-1834(2007)
Cell line collections (Providers)	Coriell; GM22690
Encyclopedic resources	Wikidata; Q54852734
Entry history
Entry creation	01-Dec-2016
Last entry update	27-Nov-2025
Version number	12