GM28234

GM28234 Fibroblast

Description:

ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1
COLLAGEN, TYPE VI, ALPHA-2; COL6A2
COLLAGEN, TYPE VI, ALPHA-3; COL6A3

Affected:

Yes

Sex:

Female

Age:

2 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Race

Other

Ethnicity

Syrian; Jewish

Country of Origin

USA

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

ISCN

46,XX[20]

Species

Homo sapiens

Common Name

Human

Remarks

See Phenotypic Data Tab

Characterizations

PDL at Freeze

6.62

Passage Frozen

Gene

COL6A2

Chromosomal Location

21q22.3

Allelic Variant 1

p.Arg468Ter; ULLRICH CONGENITAL MUSCULAR DYSTROPHY

Identified Mutation

c.1402C>T (p.Arg468Ter)

Gene

COL6A3

Chromosomal Location

2q37

Allelic Variant 1

P.Arg625Thr; ULLRICH CONGENITAL MUSCULAR DYSTROPHY

Identified Mutation

c.1874G>C (P.Arg625Thr)

Gene

COL6A2

Chromosomal Location

21q22.3

Allelic Variant 2

p.Arg468Ter; ULLRICH CONGENITAL MUSCULAR DYSTROPHY

Identified Mutation

c.1402C>T (p.Arg468Ter)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

2 YR

Sex

Female

Age at Diagnosis(If not a control)

15 MO

Racial Category

Other

Country

USA

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

EXOME ANALYSIS REVEALED A HOMOZYGOUS MUTATION IN THE COL6A2 GENE: C.1402C>T (P.ARG468*), EXON 17

Zygosity:

Homozygous

Other variants:

EXOME ANALYSIS ALSO REVEALED A HETEROZYGOUS MUTATION OF UNCERTAIN SIGNIFICANCE IN THE COL6A3 GENE: C.1874G>C (P.ARG625THR), EXON 5

Age of Symptom Onset and Age at Diagnosis

Age at Diagnosis:

15 MONTHS

In Utero History Information

Birth History Information

Dysmorphic Features

Neurological Symptoms

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Developmental Milestones

Gastrointestinal Symptoms

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Additional Information

Testing Performed

Treatments and Assistive Devices

Occupational therapy
Physical therapy

Medications

Family History

External Links

Gene Cards

COL6A2

COL6A3

Gene Ontology

GO:0004867 serine-type endopeptidase inhibitor activity

GO:0005201 extracellular matrix structural constituent

GO:0005515 protein binding

GO:0005578 extracellular matrix

GO:0005581 collagen

GO:0005589 collagen type VI

GO:0005737 cytoplasm

GO:0006817 phosphate transport

GO:0007155 cell adhesion

GO:0007517 muscle development

GO:0016337 cell-cell adhesion

GO:0030198 extracellular matrix organization and biogenesis

GO:0030674 protein binding, bridging

NCBI Gene

Gene ID:1292

Gene ID:1293

NCBI GTR

120240 COLLAGEN, TYPE VI, ALPHA-2; COL6A2

120250 COLLAGEN, TYPE VI, ALPHA-3; COL6A3

254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1

OMIM

120240 COLLAGEN, TYPE VI, ALPHA-2; COL6A2

120250 COLLAGEN, TYPE VI, ALPHA-3; COL6A3

254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1

Omim Description

ULLRICH DISEASE

Culture Protocols

Cumulative PDL at Freeze

6.62

Passage Frozen

Split Ratio

1:5

Temperature

37 C

Percent CO2

Percent O2

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:

$311.00USD

Academic/Non-profit/Government:

$176.00USD

Description:

ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 COLLAGEN, TYPE VI, ALPHA-2; COL6A2 COLLAGEN, TYPE VI, ALPHA-3; COL6A3

Affected:

Yes

Sex:

Female

Age:

2 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1
COLLAGEN, TYPE VI, ALPHA-2; COL6A2
COLLAGEN, TYPE VI, ALPHA-3; COL6A3