GM27122

GM27122 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

Female

Age:

47 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

White

Ethnicity

Not Hispanic/Latino

Ethnicity

Jewish, South African

Country of Origin

USA

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; maximum and current motor function is running with both feet leaving the ground and climbing at least 4 stairs with handrail; homozygous genetic variant found on exon 5 of SEPN1 gene c.713dupA resulting in a frameshift mutation and premature protein termination (p.Asn238LysfsStop63); BiPAP used most/all nights for less than 12 hours; has one affected 27 year old niece who is not in the repository.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

SEPN1

Chromosomal Location

1p36-p35

Allelic Variant 1

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)