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Cellosaurus FA20P (CVCL_J286)

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Cell line name FA20P
Accession CVCL_J286
Resource Identification Initiative To cite this cell line use: FA20P (RRID:CVCL_J286)
Comments Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3582; FANCA; Simple; p.Met1Val (c.1A>G); ClinVar=VCV000435134; Zygosity=Homozygous (DOI=10.1007/0-387-33776-8_11; PubMed=10090479).
Disease Fanconi anemia, complementation group A (NCIt: C125702)
Fanconi anemia (ORDO: Orphanet_84)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Category Finite cell line
STR profile Source(s): JCRB=JCRB3010

Markers:
AmelogeninX,Y
CSF1PO12,13
D5S81810,12
D7S82011,12
D13S3177,11
D16S53911
TH019,10
TPOX8,9
vWA16,17

Run an STR similarity search on this cell line
Publications

PubMed=10090479; DOI=10.1002/(SICI)1098-1004(1999)13:3<237::AID-HUMU8>3.0.CO;2-F
Akira Tachibana, Takesi Kato, Yosuke Ejima, Toshiko Yamada, Takashi Shimizu, Li-Chun Yang, Yukiko Tsunematsu, Masao S. Sasaki;
The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability.
Hum. Mutat. 13:237-244(1999)

DOI=10.1007/0-387-33776-8_11
Akira Tachibana;
Mutational analyses of Fanconi anemia genes in Japanese patients.
(In book chapter) Molecular mechanisms of Fanconi anemia; Ahmad, Shamim I. & Kirk, Sandra H. (eds.); pp.103-114; Springer; New York; USA (2006)

Cross-references
Cell line collections (Providers) JCRB; JCRB3010
JCRB; KURB1390 - Discontinued
Biological sample resources BioSample; SAMN03472406
Encyclopedic resources Wikidata; Q54833177
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number17