GM26594
Fibroblast from Skin, Arm
Description:
CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG
N-GLYCANASE 1; NGLY1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Biopsy Source
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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Arm
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Irish/German
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Country of Origin
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USA
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Family Member
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3
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Family History
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N
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Relation to Proband
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mother
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
6.17 |
| Passage Frozen |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| 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). |
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| 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). |
| Remarks |
Unaffected carrier; mother (GM26593 lymph) of affected child (GM25344 fibro; GM25330 lymph); affected daughter (GM25331 lymph and GM25343 fibro) ; heterozygous mutation (c.930C>T) in exon 6 of NGLY1 gene resulting in p.Gly310Gly; genetic testing also showed heterozygous mutation (c.4060 A>T) in exon 33 of the CACNAIS gene resulting in p.Thr1354Ser; maternal cousin of affected children died at 3 weeks of age from aortic stenosis; distant maternal relative has Down Syndrome; distant maternal relative has cleft lip and palate; distant maternal relative died in adolescence from congenital heart disease. |
| Passage Frozen |
5 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| 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 |
- |
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