GM28532

GM28532 LCL from B-Lymphocyte

Description:

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

Affected:

Yes

Sex:

Female

Age:

18 MO (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

More than one race

Ethnicity

Not Hispanic/Latino

Ethnicity

White and Black/African American

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

Confirmation

Biochemical characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

See "Phenotypic Data" Tab

Characterizations

Gene

MTHFR

Chromosomal Location

1p36.3

Allelic Variant 1

Trp583*; HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

Identified Mutation

c.1748G>A (p.Trp583*)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

18 MO

Sex

Female

Age at Diagnosis(If not a control)

2 WK

Hispanic or Latino/Not Hispanic or Latino

Not Hispanic/Latino

Racial Category

More than one race

Country

USA

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

TARGETED SEQUENCING ANALYSIS OF GENOMIC DNA REVEALED A HETEROZYGOUS AUTOSOMAL RECESSIVE PATHOGENIC VARIANT (C.1748G>A) IN EXON 11 OF THE MTHFR GENE RESULTING IN A PREMATURE TRANSLATIONAL STOP SIGNAL (P.TRP583*); READS ALIGNED TO A REFERENCE SEQUENCE GRCH37

Zygosity:

Heterozygous

Other variants:

TARGETED SEQUENCING ANALYSIS OF GENOMIC DNA REVEALED A HETEROZYGOUS VARIANT OF UNCERTAIN SIGNIFICANCE (C.767T>A) IN EXON 5 OF THE MTHFR GENE RESULTING IN A REPLACEMENT OF ISOLEUCINE WITH ASPARAGINE AT CODON 256 (P.ILE256ASN); READS ALIGNED TO A REFERENCE SEQUENCE GRCH37

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

BIRTH

Age at Diagnosis:

2 WEEKS OLD

In Utero History Information

Birth History Information

Dysmorphic Features

Additional Information:

SMALL HEAD

Neurological Symptoms

Seizures

Optical and Audiological Symptoms

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

Physical therapy

Medications

Family History

Remarks

See "Phenotypic Data" Tab

External Links

Gene Cards

MTHFR

Gene Ontology

GO:0004489 methylenetetrahydrofolate reductase (NADPH) activity

GO:0006520 amino acid metabolism

GO:0006555 methionine metabolism

GO:0008015 circulation

GO:0016491 oxidoreductase activity

NCBI Gene

Gene ID:4524

NCBI GTR

236250 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

607093 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

OMIM

236250 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

607093 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

Omim Description

5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFRHOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATEREDUCTASE ACTIVITY, INCLUDED

METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY, INCLUDED

MTHFR DEFICIENCY, INCLUDED

MTHFR DEFICIENCY, THERMOLABILE TYPE, INCLUDED

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

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD

Description:

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

Affected:

Yes

Sex:

Female

Age:

18 MO (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR