GM24467
Fibroblast from Skin, Skin
Description:
SELENON-RELATED MYOPATHY;
RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1
SELENOPROTEIN N, 1; SEPN1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific |
| Class |
Congenital Muscle Diseases |
|
Biopsy Source
|
Skin
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Skin
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Country of Origin
|
USA
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
3.23 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
SEPN1 |
| Chromosomal Location |
1p36-p35 |
| Allelic Variant 1 |
606210.0008; |
| Identified Mutation |
c.943G>A |
| |
| Gene |
SEPN1 |
| Chromosomal Location |
1p36-p35 |
| Allelic Variant 1 |
Frameshift; |
| Identified Mutation |
c.142delG |
| Remarks |
Clinically affected; motor functions achieved: turned in bed at 6 months, sat without assistance at 6 months, stood without assistance at 12 months, walked at 14 months, climbed stairs at 18 months, ran at 16 months; constipation; alveolar hypoventilation requiring bipap and cough assist; rigid spine with scoliosis in the lumbar region; Northstar Assessment Score of 29 out of 34; CK: 125; respiratory status: FVC (liters) 0.8 liters, FVC% predicted 55, MIP:35, MIP%59, MEP 39, MEP% 60, cough peak flow: 120; donor subject is heterozygous for a mutation (c.142delG) in exon 1 of the SEPN1 gene predicting premature protein termination (p.Val48SerfsStop18); donor subject is also heterozygous for a mutation (c.943G>A) in exon 7 of the SEPN1 gene predicting a p.Gly315Ser amino acid substitution; medications include Miralax; wears glasses and TSLO brace; surgeries include: g-tube placement for food aversion and failure to thrive. |
| Cumulative PDL at Freeze |
3.23 |
| Passage Frozen |
2 |
| Split Ratio |
1:7 |
| 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 |
| Substrate |
None specified |
| Supplement |
- |
|
|