GM26599
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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English/Scottish
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Country of Origin
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USA
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Family Member
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2
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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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Confirmation
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Molecular characterization before cell line submission to CCR
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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 |
6.58 |
| Passage Frozen |
4 |
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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.S116X; CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG |
| Identified Mutation |
c.347C>G |
| Remarks |
Unaffected carrier (GM25597 B-lymphocyte); 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]. |
| 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 |
| Passage Frozen |
4 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
- |
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