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Cellosaurus AT4JTO (CVCL_M812)

[Text version]
Cell line name AT4JTO
Synonyms Ataxia Telangiectasia 4 Japan TOkyo
Accession CVCL_M812
Resource Identification Initiative To cite this cell line use: AT4JTO (RRID:CVCL_M812)
Comments Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 795; ATM; Simple; c.4612del165 (Ex33del); Zygosity=Heterozygous (PubMed=9600235).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_ZN19 (AT4JTO(SV))
Sex of cell Female
Age at sampling 12Y
Category Finite cell line
STR profile Source(s): JCRB

Markers:
AmelogeninX
CSF1PO11
D5S8189,10
D7S82010,12
D13S3178,9
D16S5399,12
TH019
TPOX8,11
vWA16,17

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Publications

PubMed=7057793; DOI=10.1016/0165-7992(82)90026-4
Ejima Y., Sasaki M.S., Utsumi H., Kaneko A., Tanooka H.
Radiosensitivity of fibroblasts from patients with retinoblastoma and chromosome-13 anomalies.
Mutat. Res. 103:177-184(1982)

PubMed=9600235; DOI=10.1007/s004390050712
Ejima Y., Sasaki M.S.
Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderance of the two founder mutations 4612del165 and 7883del5.
Hum. Genet. 102:403-408(1998)

Cross-references
Cell line collections (Providers) JCRB; JCRB3052
JCRB; KURB1810 - Discontinued
Encyclopedic resources Wikidata; Q54750932
Entry history
Entry creation05-Nov-2013
Last entry update29-Jun-2023
Version number14