GM26069 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® GM26069 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; diagnosis confirmed via creatine kinase level, muscle biopsy, and electromyography; hypermobility; scoliosis; tortocolis; trigger thumb; low muscle tone; various contractures; motor functions achieved and maintained without assistance: holding head up, sitting, and walking; motor function achieved but no longer maintained without assistance: running; initial analysis of skeletal muscle biopsy revealed no obvious morphologic abnormalities, but further studies showed apparent loss of collagen VI from the sarcolemma of the myofibres and condensation in the interstitium; RT-PCR and sequencing from fibroblast mRNA, and genomic PCR and sequencing using fibroblast DNA was used to screen for COL6A1, COL6A2, and COL6A3; a de novo heterozygous genomic deletion in COL6A1 that removes exons 5-9 and leads to an in-frame deletion of 90 amino acids was identified; sequencing was not performed at Coriell, but was confirmed via external lab and submitted with sample; unaffected mother is GM26070 and unaffected father is GM26071.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM26069
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:9 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:LCL
Gene:COL6A1
Mutations突变:del exons 5-9
Ethnicity:Australian
Family:3323
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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