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GM24384 Fibroblast from Skin, Skin

Description:

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

Affected:

Yes

Sex:

Male

Age:

8 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links
  • Culture Protocols

Overview

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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
Country of Origin USA
Family History N
Relation to Proband proband
Confirmation Biochemical characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; hypotonia noted at birth; sat without assistance, but lost the ability to at 10 years of age; history of hypoglycemia; pneumonia complicated with pneumothorax and pulmonary failure; scoliosis; right hip dislocation; severe alveolar hypoventilation and chronic respiratory insufficiency; high risk of aspiration; difficulty swallowing; vitamin D deficient; osteoporosis of disuse; frequent irritability; creatine phosphokinase 26 IU/L and 28 IU/L; 3 mutations identified in the COL6A1 gene: heterozygous exon 9 c.850G>A missense triple helix domain Gly284Arg; exon 16 c.1182+3G>A splice donor and exon 29 c.1814-6C>G splice acceptor; assistive devices include sip-ventilator; surgeries include scoliosis surgery.

Characterizations

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PDL at Freeze 5.98
 
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 850G>A
 
Gene COL6A1
Chromosomal Location 21q22.3
Allelic Variant 2 ; ULLRICH CONGENITAL MUSCULAR DYSTROPHY
Identified Mutation 1182+3G>A
 
Gene COL6A1
Chromosomal Location 21q22.3
Allelic Variant 3 ; ULLRICH CONGENITAL MUSCULAR DYSTROPHY
Identified Mutation 1814-6C>G

Phenotypic Data

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Remarks Clinically affected; hypotonia noted at birth; sat without assistance, but lost the ability to at 10 years of age; history of hypoglycemia; pneumonia complicated with pneumothorax and pulmonary failure; scoliosis; right hip dislocation; severe alveolar hypoventilation and chronic respiratory insufficiency; high risk of aspiration; difficulty swallowing; vitamin D deficient; osteoporosis of disuse; frequent irritability; creatine phosphokinase 26 IU/L and 28 IU/L; 3 mutations identified in the COL6A1 gene: heterozygous exon 9 c.850G>A missense triple helix domain Gly284Arg; exon 16 c.1182+3G>A splice donor and exon 29 c.1814-6C>G splice acceptor; assistive devices include sip-ventilator; surgeries include scoliosis surgery.

External Links

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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

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Cumulative PDL at Freeze 5.98
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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