GM23681 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® GM23681 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; walked at 14 months; holds head up, turns in bed, sits, stands, and walks (indoors and out) without assistance; can climb stairs with a handrail; unable to rise from floor at age 15 years old; generalized weakness (proximal > distal); toriticollis; undescended testes (orchiplexy); Goldenhaur syndrome; contractures (finger flexors, elbows, hips, knees, ankles); distal laxity in fingers; hyperkeratosis pilaris; restrictive lung disease; cardiac assessment notes narrow pulmonary valve treated in past with balloon stenting; creatine phosphokinase = 550; muscle biopsy noted to have dystrophic appearance; MRI of muscle showed diffuse fatty infiltration in the gluteal region; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 901 in exon 8 of the COL6A2 gene (901G>A) resulting in a substitution of serine for glycine at codon 301 [Gly301Ser (G301S)]; and the second allele has a C>T transition at nucleotide 1552 in exon 19 (1552C>T) resulting in the substitution of serine for proline at codon 518 [Pro518Ser (P518S)].
Category分类：B-Lymphocyte
ID编号:NTCC®-GM23681
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:16 YR
Gender性别:Male
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:GLY301SER PRO518SER
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
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net