ID   GM28026
AC   CVCL_A5MF
DR   Coriell; GM28026
DR   Wikidata; Q107115201
CC   Sequence variation: Mutation; HGNC; HGNC:6408; MAFB; Simple; p.Pro71Arg (c.212C>G); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28026).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C178416; Multicentric carpotarsal osteolysis syndrome
DI   ORDO; Orphanet_2774; Multicentric carpo-tarsal osteolysis with or without nephropathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3Y
CA   Transformed cell line
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 6
//