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Cellosaurus FA9JTOTERT (CVCL_2897)

[Text version]
Cell line name FA9JTOTERT
Accession CVCL_2897
Resource Identification Initiative To cite this cell line use: FA9JTOTERT (RRID:CVCL_2897)
Comments Population: Japanese.
Transfected with: HGNC; 11730; TERT.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 3588; FANCG; Simple; c.307+1G>C (IVS3+1G>C); ClinVar=VCV000006714; Zygosity=Homozygous; Note=Splice donor mutation (from parent cell line).
Disease Fanconi anemia, complementation group G (NCIt: C125708)
Fanconi anemia (ORDO: Orphanet_84)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_2896 (FA9JTO)
Sex of cell Male
Age at sampling 7Y
Category Telomerase immortalized cell line
STR profile Source(s): JCRB

Markers:
AmelogeninX,Y
CSF1PO11,12
D5S81812
D7S82011
D13S3179,12
D16S5399,11
TH019
TPOX8,11
vWA14

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Cross-references
Cell line collections (Providers) JCRB; JCRB1060
JCRB; NIHS0310 - Discontinued
Encyclopedic resources Wikidata; Q54833219
Entry history
Entry creation04-Apr-2012
Last entry update29-Jun-2023
Version number17