GM27120
LCL from B-Lymphocyte
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 PIGI Consented Sample |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Ethnicity
|
English, Scottish, Italian
|
Country of Origin
|
USA
|
Family Member
|
1
|
Family History
|
N
|
Relation to Proband
|
proband
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Gene |
SEPN1 |
Chromosomal Location |
1p36-p35 |
Allelic Variant 1 |
p.Asn238Lysfs*63; RIGID SPINE MUSCULAR DYSTROPHY 1 |
Identified Mutation |
c.1397G>A (p.Asn238Lysfs*63) |
|
Gene |
SEPN1 |
Chromosomal Location |
1p36-p35 |
Allelic Variant 2 |
606210.0006; RIGID SPINE MUSCULAR DYSTROPHY 1 |
Identified Mutation |
713dupA (c.713_714Ins); 1-bp insertion in the SEPN1 gene that was found in compound heterozygous state in patients with multiminicore disease (602771) by Ferreiro et al. (2002) |
Remarks |
Clinically affected child of unaffected father (GM27121, lymph); compound heterozygous mutations in SEPN1 gene NM_020451.2; mutation in exon 11: c.1397G>A (p.Asn238Lysfs*63) and mutation in exon 5: c.713_714Ins(p.Asn238Lysfs*63); maximum motor function achieved: running with both feet leaving ground and climbing at least 4 stairs without handrail; current motor function: walks without assistance outdoors greater than 10 steps; climbs at least 4 stairs with handrail; uses BiPAP most/all nights (less than 12 hours). |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not Inactivated |
Substrate |
None specified |
Subcultivation Method |
dilution - add fresh medium |
Supplement |
- |
|
|