GM27127

GM27127 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

Male

Age:

37 YR (At Sampling)

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

Asian, Other

Ethnicity

Not Hispanic/Latino

Ethnicity

Chinese

Country of Origin

USA

Family History

Relation to Proband

proband

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; heterozygous mutation in SEPN1 gene on exon 6 c.802C>T (p.Arg268Cys) and additional heterozygous mutation in SEPN1 gene on exon 11 c.1406G>A (p.Arg469Gln); maximum motor function is running with both feet leaving ground; current motor function is climbing at least 4 stairs with handrail; BiPAP 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

;

Identified Mutation

c.802c>t

Gene

SEPN1

Chromosomal Location

1p36-p35

Allelic Variant 1

;

Identified Mutation

c.1406G>A

Phenotypic Data

Remarks

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

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:

$311.00USD

Academic/Non-profit/Government:

$176.00USD

Description:

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

Affected:

Yes

Sex:

Male

Age:

37 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

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