GM23781

GM23781 LCL from B-Lymphocyte

Description:

CENTRAL CORE DISEASE OF MUSCLE

Affected:

No

Sex:

Male

Age:

31 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Muscular Dystrophies
CMD Specific

Class

Congenital Muscle Diseases

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/IRISH/CHEROKEE INDIAN

Family Member

Family History

Relation to Proband

father

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically unaffected; subject is heterozygous in exon 85 of the RYR1 gene for a variant defined as c.11763 C>A which is predicted to result in premature protein termination (p.Tyr3921Stop); father of an affected daughter; proband not in the Repository.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

RYR1

Chromosomal Location

19q13.2

Allelic Variant 1

180901.1; CENTRAL CORE DISEASE OF THE MUSCLE

Identified Mutation

c.11763 C>A

Phenotypic Data

Remarks

External Links

NCBI GTR

117000 CENTRAL CORE DISEASE OF MUSCLE; CCD

OMIM

117000 CENTRAL CORE DISEASE OF MUSCLE; CCD

Omim Description

CCD

CCO

CENTRAL CORE DISEASE OF MUSCLE

Culture Protocols

Split Ratio

1:3

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:

$373.00USD

Academic/Non-profit/Government:

$216.00USD