GM25597

GM25597 LCL from B-Lymphocyte

Description:

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

Affected:

No

Sex:

Female

Age:

48 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

Ethnicity

Not Hispanic/Latino

Ethnicity

English/Scottish

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 (GM26599 fibroblast); exome sequencing (UCSC hg19) of the NGLY1 gene revealed that the donor is heterozygous for a c.347C>G (S116X) mutation in exon 3 of the NGLY1 gene; affected son is GM25596; unaffected father of GM25596 is GM25598. [GM25596 described in publication by J. Heeley and M. Shinawi 2014 – PMID 25707956].

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

NGLY1

Chromosomal Location

3p24.2

Allelic Variant 1

p.S116X; CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG

Identified Mutation

c.347C>G

Phenotypic Data

Remarks

Publications

Heeley J, Shinawi M, Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations American journal of medical genetics Part A167A:816-20 2014

PubMed ID: 25707956

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

1:4

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