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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)
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
Asian
Ethnicity
Not Hispanic/Latino
Ethnicity
Indian
Country of Origin
USA
Family Member
1
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. 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
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
Add to Cart
How to Order
Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form
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