GM25994

GM25994 Fibroblast from Skin, Skin

Description:

NESCAV SYNDROME; NESCAVS
KINESIN FAMILY MEMBER 1A; KIF1A

Affected:

Yes

Sex:

Female

Age:

6 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Biopsy Source

Skin

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Skin

Race

White

Ethnicity

Not Hispanic/Latino

Country of Origin

USA

Family History

Relation to Proband

proband

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; diagnosed at age 1; symptom onset at approximately age 1; global developmental delay and ataxia; MRI revealed cerebellar atrophy in the vermis and hemispheres; whole exome sequencing and Sanger sequencing of the KIF1A gene revealed a de novo heterozygous mutation: p.G484S; treatment: physical therapy, occupational therapy.

Characterizations

PDL at Freeze

2.8

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

KIF1A

Chromosomal Location

2q37.3

Allelic Variant 1

p.G484S; MENTAL RETARDATION, AUTOSOMAL DOMINANT 9; MRD9

Identified Mutation

GLY484SER

Phenotypic Data

Remarks

External Links

Gene Cards

KIF1A

Gene Ontology

GO:0003774 motor activity

GO:0005524 ATP binding

GO:0005875 microtubule associated complex

GO:0008089 anterograde axon cargo transport

NCBI Gene

Gene ID:547

NCBI GTR

601255 KINESIN FAMILY MEMBER 1A; KIF1A

614255 NESCAV SYNDROME; NESCAVS

OMIM

601255 KINESIN FAMILY MEMBER 1A; KIF1A

614255 NESCAV SYNDROME; NESCAVS

Culture Protocols

Cumulative PDL at Freeze

4.22

Passage Frozen

Split Ratio

1:12

Temperature

37 C

Percent CO2

Percent O2

Medium

Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not inactivated

Supplement

Pricing

International/Commercial/For-profit:

$373.00USD

U.S. Academic/Non-profit/Government:

$216.00USD