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Cellosaurus AT1KY TERT (CVCL_RW79)

[Text version]

Cell line name AT1KY TERT
Synonyms AT1KY/TERT
Accession CVCL_RW79
Resource Identification Initiative To cite this cell line use: AT1KY TERT (RRID:CVCL_RW79)
Comments Population: Japanese.
Transfected with: HGNC; 11730; TERT.
Derived from sampling site: Skin.
Sequence variations Heterozygous for ATM p.Lys1550Argfs*13 (c.4649delA) (from parent cell line).
Heterozygous for ATM p.Ile2629Serfs*24 (c.7881_7885TATTA[1]) (c.7883_7887delTTATA) (ClinVar=VCV000230200) (from parent cell line).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_RW78 (AT1KY)
Sex of cell Female
Age at sampling 7Y
Category Telomerase immortalized cell line
STR profile Source(s): JCRB

Markers:
AmelogeninX
CSF1PO10,11
D5S81810
D7S8209,12
D13S31711,12
D16S53910,12
TH016,7
TPOX11,12
vWA18

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Publications

PubMed=14570874; DOI=10.1074/jbc.M309457200
Naka K., Tachibana A., Ikeda K., Motoyama N.
Stress-induced premature senescence in hTERT-expressing ataxia telangiectasia fibroblasts.
J. Biol. Chem. 279:2030-2037(2004)

Cross-references
Cell line collections JCRB; JCRB3059
JCRB; KURB1774 - Discontinued
Other Wikidata; Q54750844
Entry history
Entry creation05-Mar-2018
Last entry update12-Jan-2021
Version number8