GM24232 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-2; COL6A2 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM24232 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-2; COL6A2 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-2；科尔6A2细胞株
Description描述：Clinically affected; onset of symptoms at birth; motor functions achieved and currently maintained: held head up without assistance at 4 months; turned in bed without assistance at 4 months; sat without assistance at 8 months; stood without assistance at 14 months; walked with assistance at 22 months; maximum motor function ever achieved: walking outdoors without assistance at 22 months; cannot climb stairs with handrail; cannot run; motor skills are relatively normal, but needs supervision to prevent falling when walking; diagnosis confirmed by muscle biopsy; abnormal creatine kinase; mildly underdeveloped brain by MRI/CT scan; sequencing revealed that donor subject is a compound heterozygote: one allele has a C>G transversion at nucleotide 856-3 in intron 6 of the COL6A2 gene (IVS6-3C>G) resulting in the disruption of the normal splice acceptor site between intron 6 and exon 7; the second allele has an A>T transversion at nucleotide 2386 in exon 26 resulting in a premature stop at codon 796 [Lys796Ter (K796X)]; same as GM23308 (Fibro); unaffected father is GM23306 (Lymph) and GM23307 (Fibro); unaffected mother is GM23305 (Lymph).
Category分类：B-Lymphocyte
ID编号:NTCC®-GM24232
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: Korean
Age年龄:5 YR
Gender性别:Female
Cell Type细胞类型: ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-2; COL6A2
Affected State:Yes
Product:LCL
Gene:COL6A2
Mutations突变:IVS6-3C>G LYS796TER
Ethnicity:
Family:3005
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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