GM27195

GM27195 Fibroblast

Description:

MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
LAMININ, ALPHA-2; LAMA2

Affected:

Yes

Sex:

Female

Age:

9 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Muscular Dystrophies
CMD Specific
PIGI Consented Sample

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Race

White

Ethnicity

Not Hispanic/Latino

Ethnicity

European

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected.

Characterizations

PDL at Freeze

8.68

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Phenotypic Data

Remarks

Clinically affected.

External Links

Gene Cards

LAMA2

Gene Ontology

GO:0005102 receptor binding

GO:0005198 structural molecule activity

GO:0005515 protein binding

GO:0005604 basement membrane

GO:0005606 laminin-1

GO:0007517 muscle development

GO:0030155 regulation of cell adhesion

GO:0030334 regulation of cell migration

GO:0045995 regulation of embryonic development

NCBI Gene

Gene ID:3908

NCBI GTR

156225 LAMININ, ALPHA-2; LAMA2

607855 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A

OMIM

156225 LAMININ, ALPHA-2; LAMA2

607855 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A

Omim Description

MUSCULAR DYSTROPHY CONGENITAL MEROSIN-DEFICIENT 1A; MDC1A

Culture Protocols

Cumulative PDL at Freeze

8.68

Passage Frozen

Split Ratio

1:4

Temperature

37 C

Percent CO2

Percent O2

AMBIENT

Medium

Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not inactivated

Supplement

Pricing

Commercial/For-profit:

$373.00USD

Academic/Non-profit/Government:

$216.00USD