GM27899

GM27899 Fibroblast from Skin, Skin

Description:

MYOCLONIC-ATONIC EPILEPSY; MAE
SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER GABA) MEMBER 1; SLC6A1

Affected:

Yes

Sex:

Male

Age:

2 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

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

See Phenotypic Data Tab

Characterizations

PDL at Freeze

5.27

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

SLC6A1

Chromosomal Location

3p25.3

Allelic Variant 1

137165..0005; MYOCLONIC-ATONIC EPILEPSY

Identified Mutation

c.863C>T (p.Ala288Val)

Gene

TRIO

Chromosomal Location

5p15.2

Allelic Variant 1

pArg2707*; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY; MRD44

Identified Mutation

c.8119C>T (p.Arg2707*)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

2 YR

Sex

Male

Age at Diagnosis(If not a control)

19 MO

Hispanic or Latino/Not Hispanic or Latino

Not Hispanic/Latino

Racial Category

White

Country

USA

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

WHOLE EXOME SEQUENCING DETECTED A MUTATION IN SLC6A1 C.863C>T (P.ALA288VAL)

Zygosity:

Heterozygous
Notes: VARIANT IS POSSIBLY MOSAIC IN MOTHER

Other variants:

WHOLE EXOME SEQUENCING REVEALED A PATHOGENIC VARIANT IN TRIO C.8119C>T (P.ARG2707*)

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

AT BIRTH

Age at Diagnosis:

19 MONTHS

In Utero History Information

Birth History Information

Dysmorphic Features

Neurological Symptoms

Chorea

Additional Information:

TREMOR; DYSKINESIAS; EXTRA-AXIAL CEREBROSPINAL FLUID ACCUMULATION

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Developmental Milestones

Gastrointestinal Symptoms

Gastrointestinal reflux

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Additional Information

Testing Performed

Neurological Testing:

ABNORMAL EEG (MULTIFOCAL EPILEPTIC DISCHARGES)

Respiratory and Cardiovascular Testing:

NORMAL EKG

Treatments and Assistive Devices

Occupational therapy
Physical therapy
Speech therapy

Medications

Family History

External Links

Gene Cards

SLC6A1

Gene Ontology

GO:0005331 gamma-aminobutyric acid transporter activity

GO:0005332 gamma-aminobutyric acid:sodium symporter activity

GO:0005624 membrane fraction

GO:0005887 integral to plasma membrane

GO:0006836 neurotransmitter transport

GO:0007268 synaptic transmission

GO:0015293 symporter activity

NCBI Gene

Gene ID:6529

NCBI GTR

137165 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GABA), MEMBER 1; SLC6A1

616421 MYOCLONIC-ATONIC EPILEPSY; MAE

OMIM

137165 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GABA), MEMBER 1; SLC6A1

616421 MYOCLONIC-ATONIC EPILEPSY; MAE

Culture Protocols

Cumulative PDL at Freeze

5.27

Passage Frozen

Split Ratio

1:6

Temperature

37 C

Percent CO2

Percent O2

AMBIENT

Medium

Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not inactivated

Supplement

Pricing

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD

Description:

MYOCLONIC-ATONIC EPILEPSY; MAE SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER GABA) MEMBER 1; SLC6A1

Affected:

Yes

Sex:

Male

Age:

2 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

MYOCLONIC-ATONIC EPILEPSY; MAE
SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER GABA) MEMBER 1; SLC6A1