Name細胞名稱：NTCC? GM24384 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-1; COL6A1 Skin, Skin Cell Line
烏爾里希先天性肌營養不良癥； UCMD1 | VI 型膠原蛋白 ALPHA-1；科爾6A1細胞株
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分類：Fibroblast
ID編號:NTCC?-GM24384
Size/Quantity數量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race: White
Age年齡:8 YR
Gender性別:Male
Cell Type細胞類型: ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-1; COL6A1
Affected State:Yes
Product:Fibroblast
Gene:COL6A1
Mutations突變:1182+3G>A 1814-6C>G 850G>A
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:Skin
Complete Growth Medium完全培養基: BioVector? Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent Complete Medium
Subculturing傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
References參考文獻:

Supplier供應商:BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
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