Description:
WOLFRAM SYNDROME
WOLFRAMIN ER TRANSMEMBRANE GLYCOPROTEIN; WFS1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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|
Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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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| Passage Frozen |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Gene |
WFS1 |
| Chromosomal Location |
4p16.1 |
| Allelic Variant 1 |
606201.0005; WOLFRAM SYNDROME 1; WFS1 |
| Identified Mutation |
c.1944G>A (p.W648X) |
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| Gene |
WFS1 |
| Chromosomal Location |
4p16.1 |
| Allelic Variant 2 |
606201.0004; WOLFRAM SYNDROME 1 |
| Identified Mutation |
c.2084G>T (p.G695V) |
| Remarks |
Onset at age 11; optic atrophy; on Insulin; 2 affected sibs; see GM01795A Lymphoid |
| Grzela DP, Marciniak B, Pulaski L, Characterization of an induced pluripotent stem cell line (IMBPASi001-A) derived from fibroblasts of a patient affected by Wolfram Syndrome Stem cell research46:101858 2020 |
| PubMed ID: 32521500 |
| |
| Buck D, Greene AE, Coriell LL, Mulivor RA, Juvenile onset diabetes. Cytogenet Cell Genet28:213-6 1980 |
| PubMed ID: 7438795 |
| Passage Frozen |
3 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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