GM27682

GM27682 LCL from B-Lymphocyte

Description:

GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1
SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 1; SLC2A1

Affected:

Yes

Sex:

Female

Age:

7 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

Asian

Ethnicity

Not Hispanic/Latino

Ethnicity

Indian

Country of Origin

USA

Family Member

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. Mother is GM27683.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

SLC2A1

Chromosomal Location

1p34.2

Allelic Variant 1

p.Arg212His; GLUT1 DEFICIENCY SYNDROME 1

Identified Mutation

c.635G>A (p.Arg212His)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

7 YR

Sex

Female

Age at Diagnosis(If not a control)

3 YR

Hispanic or Latino/Not Hispanic or Latino

Not Hispanic/Latino

Racial Category

Asian

Country

USA

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

HETEROZYGOUS MUTATION IN SLC2A1: C.535G>A, P.ARG212HIS (R212H)

Zygosity:

Heterozygous

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

INFANCY

Age at Diagnosis:

3+ YEARS

In Utero History Information

Birth History Information

Dysmorphic Features

Neurological Symptoms

Ataxia
Seizures

Additional Information:

ATONIC SEIZURES

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Developmental Milestones

Gastrointestinal Symptoms

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Additional Information

Testing Performed

Treatments and Assistive Devices

Occupational therapy
Physical therapy

Additional Testing:

PSYCHOLOGICAL THERAPY

Medications

TREATMENT/MANAGEMENT: KETOGENIC DIET

Family History

External Links

Gene Cards

SLC2A1

Gene Ontology

GO:0005215 transporter activity

GO:0005351 sugar porter activity

GO:0005355 glucose transporter activity

GO:0005624 membrane fraction

GO:0008643 carbohydrate transport

GO:0015758 glucose transport

GO:0016021 integral to membrane

NCBI Gene

Gene ID:6513

NCBI GTR

138140 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 1; SLC2A1

606777 GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1

OMIM

138140 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 1; SLC2A1

606777 GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1

Culture Protocols

Split Ratio

1:4

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

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD

Description:

GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 1; SLC2A1

Affected:

Yes

Sex:

Female

Age:

7 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1
SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 1; SLC2A1