GM23735 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-1; COL6A1 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM23735 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-1; COL6A1 B-Lymphocyte 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; symptom onset at less than 2 years of age; maximum motor function ever achieved is sitting unsupported for more than one hour; diagnosis confirmed with muscle biopsy; normal brain scan. COL6A1 exon 9 deletion shown in cDNA sequence, but no mutations at splicing site. Could be large intron deletion. One homozygous variation at COL6A1 Exon9+62 T>C. Both parents are homozygous for the same variant. Fibroblast staining showed almost no matrix with strong intracellular retention.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM23735
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:
Age年龄:
Gender性别:Female
Cell Type细胞类型: ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-1; COL6A1
Affected State:Yes
Product:LCL
Gene:COL6A1
Mutations突变:Ex9 del
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 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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Email：Biovector@163.com
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