ID   GM28947
AC   CVCL_D6Z5
SY   GM28947*B
DR   Coriell; GM28947
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=GM28947).
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)
HI   CVCL_D6XY ! GM28570
SX   Male
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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