GM24369

GM24369 LCL from B-Lymphocyte

Description:

SELENON-RELATED MYOPATHY; RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1
SELENOPROTEIN N, 1; SEPN1

Affected:

Yes

Sex:

Male

Age:

7 YR (At Sampling)

Overview

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Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Muscular Dystrophies
CMD Specific

Class

Congenital Muscle Diseases

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

ASHKENAZI JEWISH

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; onset of symptoms before age 2 years; diagnosed by muscle biopsy and muscle imaging (MRI); normal creatine kinase; no developmental delay; left ventricle shortening fraction is 32%; donor subject is homozygous for a 1 bp duplication at nucleotide 713 in exon 5 of the SEPN1 gene (713dupA) predicted to result in a frameshift and premature protein termination (p.Asn238LysfsStop63); Fibroblast from same subject is GM23651.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Phenotypic Data

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Remarks

Clinically affected; onset of symptoms before age 2 years; diagnosed by muscle biopsy and muscle imaging (MRI); normal creatine kinase; no developmental delay; left ventricle shortening fraction is 32%; donor subject is homozygous for a 1 bp duplication at nucleotide 713 in exon 5 of the SEPN1 gene (713dupA) predicted to result in a frameshift and premature protein termination (p.Asn238LysfsStop63); Fibroblast from same subject is GM23651.

External Links

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Gene Cards

Gene Ontology

GO:0000004 biological_process unknown

GO:0005509 calcium ion binding

GO:0005576 extracellular

GO:0005783 endoplasmic reticulum

NCBI Gene

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

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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:

$373.00USD

Academic/Non-profit/Government:

$216.00USD