GM24384 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-1; COL6A1 Skin, Skin Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM24384 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-1; COL6A1 Skin, Skin Cell Line
乌尔里希先天性肌营养不良症； UCMD1 | VI 型胶原蛋白 ALPHA-1；科尔6A1细胞株
Description描述：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.
Category分类：Fibroblast
ID编号:NTCC®-GM24384
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:8 YR
Gender性别:Male
Cell Type细胞类型: ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-1; COL6A1
Affected State:Yes
Product:Fibroblast
Gene:COL6A1
Mutations突变:1182+3G>A 1814-6C>G 850G>A
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
References参考文献:

Supplier供应商:BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
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