Cellosaurus cell line GM28570 (CVCL

Cell line name

GM28570

Accession

CVCL_D6XY

To cite this cell line use: GM28570 (RRID:CVCL_D6XY)

Comments

Population: Indian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.

Sequence variations

Mutation; HGNC; HGNC:15766; ADNP; Simple; p.Ser738Phefs*6 (c.2212dupT); ClinVar=VCV001804918; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28570).

Disease

Mental retardation, autosomal dominant 28 (NCIt: C160662)
ADNP syndrome (ORDO: Orphanet_404448)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_D6Z5 (GM28947)

Originate from same individual

CVCL_D6XZ ! GM28572

Sex of cell

Male

Age at sampling