GM26114 NEMALINE MYOPATHY 3; NEM3 | ACTIN, ALPHA-1, SKELETAL MUSCLE; ACTA1 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM26114 NEMALINE MYOPATHY 3; NEM3 | ACTIN, ALPHA-1, SKELETAL MUSCLE; ACTA1 B-Lymphocyte Cell Line
线形肌病 3； NEM3 |肌动蛋白、α-1、骨骼肌； ACTA1细胞株
Description描述：Clinically affected; creatine kinase level: 1102 IU; donor is heterozygous for a pathogenic mutation in the ACTA1 gene (c.79G>A, p.D27N); donor also heterozygous for four other unclassified variants: COL6A3 gene (c.4103C>T, p.T1368M), NEB gene (c.5680A>G, p.R1894G), and two mutations in the TTN gene (c.11252C>G, p.P3751R and c.12571G>A, p.V419M); motor function milestones include: holding head up without assistance achieved and maintained, sitting without assistance achieved and maintained, walking without assistance was achieved but not maintained, and running never achieved; diagnostic testing: muscle biopsy and electromyography; normal brain MRI; unaffected mother and father are GM26115 and GM26116, respectively.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM26114
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:12 YR
Gender性别:Male
Cell Type细胞类型: NEMALINE MYOPATHY 3; NEM3 | ACTIN, ALPHA-1, SKELETAL MUSCLE; ACTA1
Affected State:Yes
Product:LCL
Gene:ACTA1
Mutations突变:ASP27ASN
Ethnicity:Lithuanian
Family:3329
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
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