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GM28378
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:
4
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
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
Asiatic Indian
Ethnicity
Not Hispanic/Latino
Ethnicity
Indian
Country of Origin
USA
Family History
N
Relation to Proband
proband
Confirmation
Molecular characterization before cell line submission to CCR
Species
Homo
sapiens
Common Name
Human
Remarks
See "Phenotypic Data" tab
Characterizations
Gene
CACNA1A
Chromosomal Location
19p13.13
Allelic Variant 1
Gln1674SerfsX43; EPISODIC ATAXIA, TYPE 2; EA2
Identified Mutation
c.5018dupG (p.Gln1674SerfsX43)
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
4 YR
Sex
Female
Age of Onset(If not a control)
1 MO
Age at Diagnosis(If not a control)
3 YR
Hispanic or Latino/Not Hispanic or Latino
Not Hispanic/Latino
Racial Category
Asiatic Indian
Country
USA
Data Elements
Clinical Element Type: General NIGMS Catalog Remarks
(Baseline)
Mutation Information
Gene, variant, consequence, and exon number:
WHOLE EXOME SEQUENCING OF GENOMIC DNA REVEALED A DE NOVO HETEROZYGOUS PATHOGENIC VARIANT (C.5018DUPG) IN THE CACNA1A GENE (NM_001127221.1) RESULTING IN A FRAMESHIFT MUTATION (P.GLN1674SERFSX43) IN EXON 32.
Zygosity:
Heterozygous
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:
1 MONTH
Age at Diagnosis:
2.5 YEARS
In Utero History Information
Birth History Information
Dysmorphic Features
Neurological Symptoms
Ataxia
Hypotonia
Seizures
Additional Information:
FEBRILE SEIZURES
Optical and Audiological Symptoms
Nystagmus
Additional Information:
MYOPIA; EPISODIC DOWNBEAT VERTICAL NYSTAGMUS
Musculoskeletal Symptoms
Developmental Milestones
Global developmental delay
Gastrointestinal Symptoms
Genitourinary Symptoms
Respiratory and Cardiovascular Symptoms
Cognitive and Behavioral Symptoms
Additional Information
Testing Performed
Treatments and Assistive Devices
Occupational therapy
Physical therapy
Speech therapy
Orthotics
glasses
Medications
DIAMOX; ATROPINE
Family History
PARENTS DO NOT HARBOR THE C.5018DUPG VARIANT IN CACNA1A
Remarks
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
1:4
Temperature
37 C
Percent CO2
5%
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
Commercial/For-profit:
$311.00
USD
Academic/Non-profit/Government:
$176.00
USD
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