NA01741

NA01741 DNA from Fibroblast

Description:

GALACTOSEMIA
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT

Affected:

Yes

Sex:

Male

Age:

24 FW (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Carbohydrate Metabolism

Quantity

10 µg

Quantitation Method

Please see our FAQ

Cell Type

Fibroblast

Transformant

Untransformed

Sample Source

DNA from Fibroblast

Race

White

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

See GM01743 Amniotic; clinically affected; by sequencing the donor subject was found to be heterozygous for a whole gene deletion of the GALT gene and both exons 8 and 9 repeatedly failed PCR amplification suggesting a deletion of these exons on both alleles

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis

Gene

GALT

Chromosomal Location

9p13

Allelic Variant 1

whole gene deletion; GALACTOSEMIA

Identified Mutation

EX1-11DEL

Phenotypic Data

Remarks

Publications

Yeeok Kang, Seong-Hyeuk Nam, Kyung Sun Park, Yoonjung Kim, Jong-Won Kim, Eunjung Lee, Jung Min Ko, Kyung-A Lee and Inho ParkEmail, DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data BMC Bioinformatics19: 2018

PubMed ID: 30326846