ID   GM28570
AC   CVCL_D6XY
DR   Coriell; GM28570
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:15766; ADNP; Simple; p.Ser738Phefs*6 (c.2212dupT); ClinVar=VCV001804918; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28570).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C160662; Mental retardation, autosomal dominant 28
DI   ORDO; Orphanet_404448; ADNP syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D6XZ ! GM28572
SX   Male
AG   2Y
CA   Transformed cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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