GM26153

GM26153 LCL from B-Lymphocyte

Description:

CENTRAL CORE DISEASE OF MUSCLE
MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 1; MHS1
RYANODINE RECEPTOR 1; RYR1

Affected:

Yes

Sex:

Female

Age:

41 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

European, British, Irish

Country of Origin

USA

Family History

Relation to Proband

proband

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; subject reported myalgia and myositis, nausea and vomiting, ovarian cyst, diarrhea, Corpus luteum cyst or hematoma, weakness of both lower extremities, muscle pain and fibromyalgia at doctor’s visits in 2015 and 2016; muscle biopsy of the right vastus lateralis reveled minimal, non-specific myofiber myopathy, a few scattered atrophic myofibers were present, rare nuclear clumps associated with very atrophic myofibers were also identified; genetic testing of the RYR1 gene revealed a heterozygous variant of unknown significance that is a good candidate for being a pathogenic variant based on the subjects symptomatology: c.11600A>C (p.Lys3867Thr); subject is also homozygous for a variant in the ACADS gene: c.511C>T (p.Arg171Trp).