ID   FAL38P
AC   CVCL_VH92
DR   JCRB; KURB1399
DR   Wikidata; Q54833227
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3582; FANCA; Simple; p.Ser849Phefs*40 (c.2546delC); ClinVar=VCV000408166; Zygosity=Homozygous (from autologous cell line FA38P).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C125702; Fanconi anemia, complementation group A
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_VH91 ! FA38P
SX   Male
AG   6Y
CA   Transformed cell line
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 9
//