ID   FA18JTO hTERT
AC   CVCL_D253
DR   JCRB; JCRB3007
DR   JCRB; KURB1389
DR   Wikidata; Q54833175
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3582; FANCA; Simple; c.1811delT; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:3582; FANCA; Simple; p.Ser849Phefs*40 (c.2546delC); ClinVar=VCV000408166; Zygosity=Heterozygous (from parent cell line).
CC   Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
CC   Discontinued: JCRB; KURB1389; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB3007
ST   Amelogenin: X,Y
ST   CSF1PO: 10,14
ST   D13S317: 8,10
ST   D16S539: 11
ST   D5S818: 11,13
ST   D7S820: 11
ST   TH01: 6,9
ST   TPOX: 11
ST   vWA: 16,18
DI   NCIt; C125702; Fanconi anemia, complementation group A
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_2895 ! FA18JTO
SX   Male
AG   Age unspecified
CA   Telomerase immortalized cell line
DT   Created: 22-10-12; Last updated: 19-12-24; Version: 19
//