GM27141

GM27141 LCL from B-Lymphocyte

Description:

SELENON-RELATED MYOPATHY; RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1

Affected:

No

Sex:

Female

Age:

43 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

German; Polish; Norwegian; Swedish

Country of Origin

USA

Family Member

Family History

Relation to Proband

mother

Species

Homo sapiens

Common Name

Human

Remarks

Clinically unaffected; mother of two affected sons (GM27139 and GM27142).

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Phenotypic Data

Remarks

Clinically unaffected; mother of two affected sons (GM27139 and GM27142).

External Links

Gene Cards

SEPN1

NCBI GTR

602771 SELENON-RELATED MYOPATHY RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1

OMIM

602771 SELENON-RELATED MYOPATHY RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1

Omim Description

MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE, WITH EARLY SPINERIGIDITY

Culture Protocols

Split Ratio

1:5

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