GM26201

GM26201 LCL from B-Lymphocyte

Description:

NEMALINE MYOPATHY 3; NEM3
ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1

Affected:

Yes

Sex:

Female

Age:

24 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Muscular Dystrophies
CMD Specific

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

Welsh, Irish

Country of Origin

USA

Family History

Relation to Proband

proband

Confirmation

Karyotypic analysis and Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; Achieved and maintains holding head up without assistance, Sitting without assistance; Walking without assistance; Cannot run; Diagnosed with nemaline myopathy via muscle biopsy and genetic testing: actin; Family history: father (not in repository) is clinically affected

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Phenotypic Data

Remarks

External Links

NCBI Gene

Gene ID:4754

NCBI GTR

161800 NEMALINE MYOPATHY 3; NEM3

OMIM

161800 NEMALINE MYOPATHY 3; NEM3

Omim Description

NEMALINE MYOPATHY

NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT; NEM1

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:

$311.00USD

Academic/Non-profit/Government:

$176.00USD