GM28631

GM28631 LCL from B-Lymphocyte

Description:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT

Affected:

No

Sex:

Female

Age:

31 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

White

Subject Type

trio

Ethnicity

Not Hispanic/Latino

Ethnicity

Italian, with Italian Parents

Country of Origin

ITALY

Family Member

Family History

Relation to Proband

mother

Species

Homo sapiens

Common Name

Human

Remarks

Unaffected mother; heterozygous carrier of an additional GALT variant c.855G>T (p.K285N). Affected son is GM28396 (LCL).

Characterizations

Gene

GALT

Chromosomal Location

9p13

Allelic Variant 1

606999.0013; GALACTOSEMIA

Identified Mutation

LYS285ASN; In a study of 30 families with classic galactosemia in Denmark, Greber-Platzer et al. (1997) found that the second common galactosemia mutation was lys285gln (K285N), accounting for 28% of GALT gene alleles.

Phenotypic Data

Remarks

Unaffected mother; heterozygous carrier of an additional GALT variant c.855G>T (p.K285N). Affected son is GM28396 (LCL).

External Links

Gene Cards

GALT

Gene Ontology

GO:0003982 UTP-hexose-1-phosphate uridylyltransferase activity

GO:0006012 galactose metabolism

GO:0008108 UDP-glucose-hexose-1-phosphate uridylyltransferase activity

GO:0016740 transferase activity

NCBI Gene

Gene ID:2592

NCBI GTR

606999 GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT

616579 MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40

OMIM

606999 GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT

616579 MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40

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