ID   GM28572
AC   CVCL_D6XZ
DR   Coriell; GM28572
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=GM28572).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C160662; Mental retardation, autosomal dominant 28
DI   ORDO; Orphanet_404448; ADNP syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D6XY ! GM28570
SX   Male
AG   2Y
CA   Finite cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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