GM24405 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 Skin, Skin Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM24405 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 Skin, Skin Cell Line
乌尔里希先天性肌营养不良症； UCMD1细胞株
Description描述：Clinically affected; mild left thoracic prominence; constipation; achieved and still maintains all of the following without assistance: held up head at 18 months, turned in bed at 18 months, sat at 18 months, stood at 18 months, walked at 2 years, climbed stairs at 30 months, and ran at 2 1/2 years; creatine phosphokinase levels of 509 and 442; muscle biopsy showed abnormal collagen VI on IHC testing; Northstar Assessment Score of 16, previous 6 month Northstar Ambulatory assessment was 17/34; heterozygous for a COL6A1 mutation in exon 12/intron 12, c.957+1G>A, this mutation is likely a splice site mutation.
Category分类：Fibroblast
ID编号:NTCC®-GM24405
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:2 YR
Gender性别:Female
Cell Type细胞类型: ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1
Affected State:Yes
Product:Fibroblast
Gene:COL6A1
Mutations突变:957+1G>A
Ethnicity:ITALIAN/GERMAN/IRISH/SCOTTISH/ENGLISH/FRENCH
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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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