GM26583

GM26583 Fibroblast from Skin, Arm

Description:

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

Affected:

No

Sex:

Female

Age:

33 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Biopsy Source

Arm

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Arm

Race

White

Ethnicity

Hispanic/Latino

Ethnicity

Puerto Rican; Southern European

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 child (GM25340 B-lymphocyte); c.1891delC mutation in the NGLY1 gene (p.Q631fs - frameshift mutation in exon 12); see GM25341 for B-lymphocyte.

Characterizations

PDL at Freeze

4.43

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

NGLY1

Chromosomal Location

3p24.2

Allelic Variant 1

610661.0001; CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG

Identified Mutation

c.1891delC

Phenotypic Data

Remarks

Unaffected carrier mother of affected child (GM25340 B-lymphocyte); c.1891delC mutation in the NGLY1 gene (p.Q631fs - frameshift mutation in exon 12); see GM25341 for B-lymphocyte.

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

Passage Frozen

Split Ratio

1:3

Temperature

37 C

Percent CO2

Percent O2

AMBIENT

Medium

Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not inactivated

Supplement

Pricing

Commercial/For-profit:

$373.00USD

Academic/Non-profit/Government:

$216.00USD