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GM27104
LCL
from
B-Lymphocyte
Description:
SELENON-RELATED MYOPATHY; RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1
SELENOPROTEIN N, 1; SEPN1
Affected:
Yes
Sex:
Female
Age:
6
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Overview
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
Not Hispanic/Latino
Ethnicity
Dutch; German; Russian; English
Country of Origin
USA
Family Member
1
Family History
N
Relation to Proband
proband
Confirmation
Molecular characterization before cell line submission to CCR
Species
Homo
sapiens
Common Name
Human
Remarks
Clinically affected; 2 heterozygous genetic variants in SEPN1 gene on exon 1 c.1A>G (p.Met1Val) and exon 7 c.943G>A; current and maximum motor function is climbing at least 4 stairs with handrail; BiPAP breathing support used most/all nights for less than 12 hours.
Characterizations
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
p.Met1Val;
Identified Mutation
c.1A>G
Phenotypic Data
Remarks
Clinically affected; 2 heterozygous genetic variants in SEPN1 gene on exon 1 c.1A>G (p.Met1Val) and exon 7 c.943G>A; current and maximum motor function is climbing at least 4 stairs with handrail; BiPAP breathing support used most/all nights for less than 12 hours.
External Links
Gene Cards
SELENON
SEPN1
Gene Ontology
GO:0000004 biological_process unknown
GO:0005509 calcium ion binding
GO:0005576 extracellular
GO:0005783 endoplasmic reticulum
NCBI Gene
Gene ID:57190
NCBI GTR
602771 SELENON-RELATED MYOPATHY RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1
606210 SELENOPROTEIN N; SELENON
OMIM
602771 SELENON-RELATED MYOPATHY RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1
606210 SELENOPROTEIN N; SELENON
Omim Description
MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE, WITH EARLY SPINERIGIDITY
Culture Protocols
Split Ratio
1:4
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
-
Pricing
Commercial/For-profit:
$311.00
USD
Academic/Non-profit/Government:
$176.00
USD
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