GM27104

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)

Overview

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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

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IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

SEPN1

Chromosomal Location

1p36-p35

Allelic Variant 1

Identified Mutation

c.943G>A

Gene

SEPN1

Chromosomal Location

1p36-p35

Allelic Variant 1

p.Met1Val;

Identified Mutation

c.1A>G

Phenotypic Data

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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

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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:

$311.00USD

Academic/Non-profit/Government:

$176.00USD