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GM25343 Fibroblast from Skin, Skin

Description:

CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG
N-GLYCANASE 1; NGLY1
MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5; MHS5
CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1S SUBUNIT; CACNA1S

Affected:

Yes

Sex:

Female

Age:

7 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
PIGI Consented Sample
Biopsy Source Skin
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Skin
Race White
Ethnicity Not Hispanic/Latino
Country of Origin USA
Family Member 2
Family History Y
Relation to Proband sister
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; onset of symptoms at 12 months old; diagnosed at 7 years of age; whole exome sequence analysis reveals the subject is compound heterozygous for a p.Q208X variant (p.Gln208Stop, c.622 C>T) in exon 4 and a p.G310G variant (p.Gly310Gly, c.930 C>T) in exon 6 of the NGLY1 gene; subject also found to be heterozygous for a c.4060 A>T mutation (Thr1354Ser) in the CACNA1S gene – (malignant hyperthermia susceptibility; reported as ACMG incidental finding) Test was performed using genomic DNA, the whole exome sequence was mapped and analyzed in comparison with the published human genome build UCSC hg19 reference sequence; father (not in repository) is heterozygous for the Q208X mutation in the NGLY1 gene; mother (not in repository) is heterozygous for the G310G mutation in the NGLY1 gene and heterozygous for the Thr1354Ser mutation in the CACNA1S gene; brother with similar phenotype and the same genetic test results as this subject is GM25330 (lymphoblast)/GM25344 (fibroblast); lymphoblast for this same subject is GM25331.

Characterizations

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PDL at Freeze 5.65
Passage Frozen 7
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene NGLY1
Chromosomal Location 3p24.2
Allelic Variant 1 p.Q208X; CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG
Identified Mutation GLN208TER
 
Gene CACNA1S
Chromosomal Location 1q32.1
Allelic Variant 1 ; MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
Identified Mutation THR1354SER; The major type of voltage-sensitive Ca(2+) channels in skeletal muscle is the slowly inactivating L-type that is sensitive to calcium channel blockers such as 1,4-dihydropyridines (DHP), phenylalkylamines, and benzothiazepines. These skeletal muscle Ca(2+) channels play a key role in excitation-contraction coupling, a process whereby electrical signals generated by action potentials at the muscle cell surface are transduced into intracellular release of calcium and ultimately muscle fiber contraction. The DHP-sensitive L-type Ca(2+) channel from skeletal muscle is an oligomeric protein composed of 2 high molecular weight polypeptide subunits (alpha-1 and alpha-2) and 3 smaller units (beta, gamma, and delta).
 
Gene NGLY1
Chromosomal Location 3p24.2
Allelic Variant 1 p.G310G; CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG
Identified Mutation GLY310GLY; The NGLY1 gene encodes N-glycanase (EC 3.5.1.52), a highly conserved enzyme that catalyzes deglycosylation of misfolded N-linked glycoproteins by cleaving the glycan chain before the proteins are degraded by the proteasome (Zhou et al., 2006). NGLY1 is a cytoplasmic component of the endoplasmic reticulum-associated degradation (ERAD) pathway that identifies and degrades misfolded glycoproteins (summary by Enns et al., 2014).

Phenotypic Data

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Remarks Clinically affected; onset of symptoms at 12 months old; diagnosed at 7 years of age; whole exome sequence analysis reveals the subject is compound heterozygous for a p.Q208X variant (p.Gln208Stop, c.622 C>T) in exon 4 and a p.G310G variant (p.Gly310Gly, c.930 C>T) in exon 6 of the NGLY1 gene; subject also found to be heterozygous for a c.4060 A>T mutation (Thr1354Ser) in the CACNA1S gene – (malignant hyperthermia susceptibility; reported as ACMG incidental finding) Test was performed using genomic DNA, the whole exome sequence was mapped and analyzed in comparison with the published human genome build UCSC hg19 reference sequence; father (not in repository) is heterozygous for the Q208X mutation in the NGLY1 gene; mother (not in repository) is heterozygous for the G310G mutation in the NGLY1 gene and heterozygous for the Thr1354Ser mutation in the CACNA1S gene; brother with similar phenotype and the same genetic test results as this subject is GM25330 (lymphoblast)/GM25344 (fibroblast); lymphoblast for this same subject is GM25331.

External Links

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Gene Cards CACNA1S
NGLY1
Gene Ontology GO:0005509 calcium ion binding
GO:0005624 membrane fraction
GO:0005891 voltage-gated calcium channel complex
GO:0006812 cation transport
GO:0006816 calcium ion transport
GO:0006936 muscle contraction
GO:0015270 dihydropyridine-sensitive calcium channel activity
GO:0016021 integral to membrane
NCBI Gene Gene ID:779
NCBI GTR 114208 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1S SUBUNIT; CACNA1S
601887 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5; MHS5
610661 N-GLYCANASE 1; NGLY1
615273 CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG
OMIM 114208 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1S SUBUNIT; CACNA1S
601887 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5; MHS5
610661 N-GLYCANASE 1; NGLY1
615273 CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG

Culture Protocols

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Passage Frozen 7
Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
Percent O2 3%
Medium Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate Gelatin
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$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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