GM26244 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A | LAMININ, ALPHA-2; LAMA2 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM26244 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A | LAMININ, ALPHA-2; LAMA2 B-Lymphocyte Cell Line
肌营养不良症，先天性梅洛辛缺乏症，1A； MDC1A |层粘连蛋白、α-2；喇嘛2细胞株
Description描述：Clinically affected. Axial hypotonia, areflexia, axial and limb weakness. Reiterative episodes of bronchitis. Under weight. Poor fetal movements. Induced labor. Generalized hypotonia, weakness and poor suction at birth, without facial or ocular involvement. At 2 weeks of age tested high CK level. EMG showed a myogenic pattern. A muscular biopsy showed a dystrophic pattern with absence of merosin. Compound heterozygous mutation in the LAMA2 gene c.363C>A (p.Tyr121ter)/c.2085C>T (p.Arg1029Ter). Parents are carriers.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM26244
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:2 YR
Gender性别:Female
Cell Type细胞类型: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A | LAMININ, ALPHA-2; LAMA2
Affected State:Yes
Product:LCL
Gene:LAMA2
Mutations突变:c.3085C>T (p.Arg1029Ter) c.363C>A (p.Tyr121Ter)
Ethnicity:Spanish
Family:3366
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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