GM26046
Fibroblast from Skin, Arm
Description:
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL; RMFSL
BRCA1-ASSOCIATED ATM ACTIVATOR 1; BRAT1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
PIGI Consented Sample |
|
Biopsy Source
|
Arm
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Arm
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Ethnicity
|
Amish
|
|
Country of Origin
|
USA
|
|
Family Member
|
2
|
|
Family History
|
Y
|
|
Relation to Proband
|
father
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
2.59 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
BRAT1 |
| Chromosomal Location |
7p22.3 |
| Allelic Variant 1 |
614506.0001; RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL |
| Identified Mutation |
c.638_639insA; By homozygosity mapping followed by exome sequencing of 2 Amish patients from Pennsylvania with lethal neonatal rigidity and multifocal seizure syndrome (RMFSL; 614498), Puffenberger et al. (2012) identified a homozygous 1-bp insertion (638_639insA) in the BRAT1 gene, resulting in a frameshift and premature termination. Two unrelated Old Order Amish infants from different demes in Wisconsin and Kentucky with a similar phenotype were found to carry the same homozygous mutation. Two heterozygous carriers of this mutation were found among 201 Old Order Amish control samples, yielding a population-specific allele frequency of 0.50%. The mutation abolished the nuclear localization signal, and rendered the protein unstable when expressed in human cells as shown by Western blot analysis. |
| Remarks |
Unaffected carrier father of GM26045 (fibro); mutation in the BRAT1 gene: c.638_639insA; 2 children (1 in repository) with recessive lethal neonatal rigidity and multifocal seizure syndrome; genetic testing in 2nd child revealed a homozygous recessive mutation in the BRAT1 gene: c.638_639insA. |
| Cumulative PDL at Freeze |
5.89 |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| 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 |
| Supplement |
- |
|
|