Cellosaurus cell line GM27933 (CVCL

Cell line name

GM27933

Synonyms

GM27933*B

Accession

CVCL_A2TN

To cite this cell line use: GM27933 (RRID:CVCL_A2TN)

Comments

Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.

Sequence variations

Mutation; HGNC; HGNC:888; KIF1A; Simple; p.Pro305Leu (c.914C>T); ClinVar=VCV000428604; Zygosity=Heterozygous (Coriell=GM27933).

Disease

Mental retardation, autosomal dominant 9 (NCIt: C133742)
Autosomal dominant non-syndromic intellectual disability (ORDO: Orphanet_178469)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_D2ZN (GM28967)

Sex of cell

Female

Age at sampling