Cellosaurus cell line AP2P (CVCL

Cell line name

AP2P

Synonyms

AP02P

Accession

CVCL_ZY19

To cite this cell line use: AP2P (RRID:CVCL_ZY19)

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:3588; FANCG; Simple; c.307+1G>C (IVS3+1G>C); ClinVar=VCV000006714; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=10807541).
Mutation; HGNC; HGNC:3588; FANCG; Simple; p.Gln356Ter (c.1066C>T); ClinVar=VCV000006715; Zygosity=Heterozygous (PubMed=10807541).

Disease

Fanconi anemia, complementation group G (NCIt: C125708)
Fanconi anemia (ORDO: Orphanet_84)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_ZY20 (AP2P(SVT))

Sex of cell

Female

Age at sampling