GM28854

GM28854 LCL from B-Lymphocyte

Description:

EPISODIC ATAXIA, TYPE 2; EA2
CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A

Affected:

Yes

Sex:

Female

Age:

32 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Country of Origin

USA

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected. Heterozygous mutation in the CACNA1A gene c.4033C>T (p.R1345X). See "Phenotypic Data" Tab.

Characterizations

Gene

CACNA1A

Chromosomal Location

19p13.13

Allelic Variant 1

CGA>TGA; EPISODIC ATAXIA, TYPE 2; EA2

Identified Mutation

c.4033C>T (p.Arg1345Ter)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

32 YR

Sex

Female

Age at Diagnosis(If not a control)

19 YR

Racial Category

White

Country

USA

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

CACNA1A C.4033C>T; ARGININE (CGA) 1345 STOP (TGA) AT EXON 25

Zygosity:

Heterozygous

Other variants:

CACNA1A C.1182G>A GLUTAMATE (GAG) 394 GLUTAMATE (GAA), AT EXON 8, AND IS HETEROZYGOUS AND BENIGN

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

AT BIRTH

Age at Diagnosis:

19 YEARS

In Utero History Information

Birth History Information

Dysmorphic Features

Neurological Symptoms

Additional Information:

BALANCE ISSUES

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Developmental Milestones

Additional Information:

DEVELOPMENTAL DISABILITIES

Gastrointestinal Symptoms

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Additional Information:

EPISODIC SPELLS OF DIZZINESS COGNITIVE ISSUE

Additional Information

Testing Performed

Treatments and Assistive Devices

Occupational therapy
Physical therapy
Speech therapy

Additional Testing:

PSYCHOLOGICAL THERAPY

Medications

ADDERALL, ZOLOFT, 4-AMINOPYRIDINE

Family History

Remarks

Clinically affected. Heterozygous mutation in the CACNA1A gene c.4033C>T (p.R1345X). See "Phenotypic Data" Tab.

External Links

Gene Cards

CACNA1A

Gene Ontology

GO:0003677 DNA binding

GO:0005245 voltage-gated calcium channel activity

GO:0005509 calcium ion binding

GO:0005634 nucleus

GO:0005891 voltage-gated calcium channel complex

GO:0006355 regulation of transcription, DNA-dependent

GO:0006812 cation transport

GO:0006816 calcium ion transport

GO:0007204 cytosolic calcium ion concentration elevation

GO:0007268 synaptic transmission

GO:0007399 neurogenesis

GO:0008219 cell death

GO:0016021 integral to membrane

NCBI Gene

Gene ID:773

NCBI GTR

108500 EPISODIC ATAXIA, TYPE 2; EA2

601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A

OMIM

108500 EPISODIC ATAXIA, TYPE 2; EA2

601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A

Omim Description

ACETAZOLAMIDE-RESPONSIVE HEREDITARY PAROXYSMAL CEREBELLAR ATAXIA;APCA

ATAXIA, FAMILIAL PAROXYSMAL

ATAXIA, PERIODIC VESTIBULOCEREBELLAR

CEREBELLAR ATAXIA, PAROXYSMAL, ACETAZOLAMIDE-RESPONSIVE; CAPA

CEREBELLOPATHY, HEREDITARY PAROXYSMAL

EPISODIC ATAXIA, NYSTAGMUS-ASSOCIATED

EPISODIC ATAXIA, TYPE 2; EA2

Culture Protocols

Split Ratio

1:5

Temperature

37 C

Percent CO2

Percent O2

AMBIENT

Medium

Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not Inactivated

Substrate

None specified

Subcultivation Method

dilution - add fresh medium

Supplement

Pricing

International/Commercial/For-profit:

$373.00USD

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

$216.00USD

Description:

EPISODIC ATAXIA, TYPE 2; EA2 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A

Affected:

Yes

Sex:

Female

Age:

32 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

EPISODIC ATAXIA, TYPE 2; EA2
CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A