GM25854

GM25854 Fibroblast from Skin, Skin

Description:

NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2
NEBULIN; NEB

Affected:

Yes

Sex:

Male

Age:

7 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Muscular Dystrophies
CMD Specific
PIGI Consented Sample

Biopsy Source

Skin

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Skin

Race

White

Ethnicity

Not Hispanic/Latino

Ethnicity

Italian/Irish

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; symptom onset at birth; motor functions achieved: holding head up without assistance, sit when placed; sequencing of the NEB gene revealed two heterozygous splice site mutations: c.1152+1G>A in intron 13 and c.17013+1G>T in intron 107; assistive devices: requires respiratory support for (greater than 12 hours/day); surgeries: tracheotomy; lymphoblast is GM25853.

Characterizations

PDL at Freeze

5.1

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

NEB

Chromosomal Location

2q23.3

Allelic Variant 1

; NEMALINE MYOPATHY 2 (NEM2)

Identified Mutation

c.1152+1G>A

Gene

NEB

Chromosomal Location

2q23.3

Allelic Variant 1

; NEMALINE MYOPATHY 2 (NEM2)

Identified Mutation

c.17013+1G>T

Phenotypic Data

Remarks

External Links

Gene Cards

NEB

Gene Ontology

GO:0003779 actin binding

GO:0007525 somatic muscle development

GO:0008307 structural constituent of muscle

GO:0015629 actin cytoskeleton

GO:0030017 sarcomere

GO:0030832 regulation of actin filament length

NCBI Gene

Gene ID:4703

NCBI GTR

161650 NEBULIN; NEB

256030 NEMALINE MYOPATHY 2; NEM2

OMIM

161650 NEBULIN; NEB

256030 NEMALINE MYOPATHY 2; NEM2

Omim Description

NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2

Culture Protocols

Cumulative PDL at Freeze

5.1

Passage Frozen

Split Ratio

1:3

Temperature

37 C

Percent CO2

Percent O2

Medium

Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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