GM27119

GM27119 LCL from B-Lymphocyte

Description:

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

Affected:

No

Sex:

Male

Age:

48 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

Ethnicity

Indian

Country of Origin

USA

Family Member

Family History

Relation to Proband

father

Species

Homo sapiens

Common Name

Human

Remarks

Clinically unaffected father of affected child GM27118.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Phenotypic Data

Remarks

Clinically unaffected father of affected child GM27118.

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