GM25431
Fibroblast from Skin, Abdomen
Description:
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74; DEE74
GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-2; GABRA2
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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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Abdomen
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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, Abdomen
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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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RUSSIAN/POLISH/ISRAELI
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Country of Origin
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USA
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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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 |
4.01 |
| Passage Frozen |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
GABRG2 |
| Chromosomal Location |
5q34 |
| Allelic Variant 1 |
substitution; |
| Identified Mutation |
PRO282SER |
| Remarks |
Clinically affected; onset of symptoms at 2 months of age; diagnosed at 9 years by geneticist; refractory epilepsy; seizures; mental retardation and global developmental delay; vision impairment; severe hypotonia (low muscle tone) and aspirations; failure to thrive; neurogenic scoliosis; abnormal EEG; assistive devices: wheelchair, braces, communication/learning device; therapies: psychological, speech language; medications: lamotrigine; surgeries: muscle biopsy, gastric feeding tube; subject is heterozygous for de novo Pro282Ser (c.844C>T) mutation in the GABRG2 gene (as confirmed by sequencing of genomic DNA); unaffected mother is GM25432 (fibroblast). |
| Cumulative PDL at Freeze |
7.21 |
| Passage Frozen |
3 |
| Split Ratio |
1:5 |
| 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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