GM26587

GM26587 LCL from B-Lymphocyte

Description:

CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG
N-GLYCANASE 1; NGLY1

Affected:

No

Sex:

Female

Age:

44 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Cell Type

B-Lymphocyte

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Country of Origin

USA

Family Member

Family History

Relation to Proband

mother

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Unaffected carrier mother of affected children (proband: GM26584 fibroblast; sibling: GM26585 B-lymphocyte; GM26586 fibroblast); exome analysis showed a homozygous nonsense mutation (c.1201A>T) in the NGLY1 gene that resulted in p.R401X in affected children.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

NGLY1

Chromosomal Location

3p24.2

Allelic Variant 1

610661.0002; CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG

Identified Mutation

ARG401TER; For discussion of the arg401-to-ter (R401X) mutation in the NGLY1 gene that was found in compound heterozygous state in a patient with congenital disorder of deglycosylation (CDDG; 615273) by Need et al. (2012), see 610661.0001.

Phenotypic Data

Remarks

External Links

Gene Cards

NGLY1

NCBI GTR

610661 N-GLYCANASE 1; NGLY1

615273 CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG

OMIM

610661 N-GLYCANASE 1; NGLY1

615273 CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG

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