GM24221

GM24221 LCL from B-Lymphocyte

Description:

ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1
COLLAGEN, TYPE VI, ALPHA-1; COL6A1

Affected:

Yes

Sex:

Female

Age:

11 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

Family Member

Family History

Relation to Proband

proband

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; symptom onset between 2-5 years of age; maximum motor function ever achieved and current maximum motor function: running; mutation: COL6a1. c.877G>A (p.G293R); mother is GM24222 (Lymph) and GM24223 (Fibro).

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

COL6A1

Chromosomal Location

21q22.3

Allelic Variant 1

; ULLRICH CONGENITAL MUSCULAR DYSTROPHY

Identified Mutation

877G>A

Phenotypic Data

Remarks

External Links

Gene Cards

COL6A1

Gene Ontology

GO:0005201 extracellular matrix structural constituent

GO:0005515 protein binding

GO:0005581 collagen

GO:0005589 collagen type VI

GO:0005737 cytoplasm

GO:0006817 phosphate transport

GO:0007155 cell adhesion

NCBI Gene

Gene ID:1291

NCBI GTR

120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1

254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1

OMIM

120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1

254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1

Omim Description

ULLRICH DISEASE

Culture Protocols

Split Ratio

1:4

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