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Cellosaurus AT2KYSV (CVCL_RW85)

[Text version]
Cell line name AT2KYSV
Accession CVCL_RW85
Resource Identification Initiative To cite this cell line use: AT2KYSV (RRID:CVCL_RW85)
Comments Population: Japanese.
Doubling time: 23 hours (Note=At 135th passage) (PubMed=1978855).
Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; SV40 large T antigen.
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pMK16).
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.Lys1550Argfs*13 (c.4649delA); Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:795; ATM; Simple; p.Ile2629Serfs*24 (c.7881_7885TATTA[1]) (c.7883_7887delTTATA); ClinVar=VCV000230200; Zygosity=Heterozygous (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_2861 (AT2KY)
Children:
CVCL_D5ID (AT2KYSVTG)
Sex of cell Female
Age at sampling 4Y
Category Transformed cell line
STR profile Source(s): JCRB=JCRB3061

Markers:
AmelogeninX
CSF1PO10,12
D5S8189,10
D7S82011
D13S31711,12
D16S53912
TH017,9
TPOX9,12
vWA18

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Publications

PubMed=1978855; DOI=10.1080/09553009014552301
Ejima Y., Oshimura M., Sasaki M.S.
Establishment of a novel immortalized cell line from ataxia telangiectasia fibroblasts and its use for the chromosomal assignment of radiosensitivity gene.
Int. J. Radiat. Biol. 58:989-997(1990)

PubMed=1944350; DOI=10.1016/0027-5107(91)90190-y
Ejima Y., Oshimura M., Sasaki M.S.
Determination of the chromosomal site for the human radiosensitive ataxia telangiectasia gene by chromosome transfer.
Mutat. Res. 250:337-343(1991)

Cross-references
Cell line collections (Providers) JCRB; JCRB3061
JCRB; KURB1780 - Discontinued
Encyclopedic resources Wikidata; Q54750907
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number16