GM24240 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE II, ALPHA-1; COL2A1 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM24240 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE II, ALPHA-1; COL2A1 B-Lymphocyte Cell Line
乌尔里希先天性肌营养不良症； UCMD1 |胶原蛋白，II 型，ALPHA-1；列2A1细胞株
Description描述：Clinically affected; progressive proximal weakness; contractures in ankles and knees;distal laxity;hyperkeratosis pilaris; rigid spine; easy fatigability; difficulty swallowing certain types of foods; maximum motor function ever achieved and still maintained: climbs stairs with handrail; holds head up, turns in bed, sits, stands, and walks indoors and outdoors without assistance; cannot run; mild sensory integration issues; behavioral problems; attention difficulties; cognitively bright; slightly elevated CK 400锟絪; functional mobility score: 3; CMD diagnosis confirmation by CK (blood test, creatine kinase abnormal) and genetic testing; COL6A3 mutation: heterozygous at junction of intron 18 and exon 19 at c.6310-2A>G which is predicted to interfere with the intron 18 splice acceptor site (mutation maybe working in a dominant manner); abnormal MRI /CT scan:"pineal gland cystic appearance, no mass present"; EMG myopathic.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM24240
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:6 YR
Gender性别:Male
Cell Type细胞类型: ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE II, ALPHA-1; COL2A1
Affected State:Yes
Product:LCL
Gene:COL6A3
Mutations突变:c.6310-2A>G
Ethnicity:Polish, Western European
Family:3142
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
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net