GM24259

GM24259 Fibroblast from Skin, Skin

Description:

ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1

Affected:

Yes

Sex:

Male

Age:

16 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Muscular Dystrophies
CMD Specific

Class

Congenital Muscle Diseases

Biopsy Source

Skin

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Skin

Race

White

Ethnicity

Not Hispanic/Latino

Family Member

Family History

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; symptom onset at less than 2 years of age; maximum motor function ever achieved: climb stairs with handrail; current maximum motor function: sit when placed; mutation: Col6a1 c.1002+1G>A; respiratory support used at nighttime;same as GM24242 Fibro.

Characterizations

PDL at Freeze

4.73

Passage Frozen

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

1002+1G>A

Phenotypic Data

Remarks

External Links

NCBI GTR

254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1

OMIM

254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1

Omim Description

ULLRICH DISEASE

Culture Protocols

Cumulative PDL at Freeze

4.73

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

Gelatin

Supplement

Pricing

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD