GM23507 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® GM23507 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; abnormal creatine kinase, 2099 umol/L; diagnostic muscle biopsy showed fiber Type I predominance with negative staining for merosin and normal staining for alpha dystoglycan and Collagen VI;generalized hypotonia; gross motor developmental delays; bilateral equinus ankle contractures with varus tendencies of his feet (right worse than left) - unable to tolerate serial casting; dysphagia; contractures; scoliosis; poor sleep; at risk for hypoventilation and aspiration; held head up without assistance by age 6 months; turned in bed by age 2 years; sat without assistance at 3 years of age; donor subject is a compound heterozygote: one allele has a C>A transversion at nucleotide 2901 in exon 21 of the LAMA2 gene (c.2901C>A) predicted to result in premature protein termination [Cys967Ter (C967X)]. This mutation is reported to be causative for merosin-deficient CMD. The second allele has a G>T transversion at the junction of exon 45 and intron 45 (c.6429+1G>T) expected to disrupt normal splicing and to be causative for this disorder.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM23507
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:3 YR
Gender性别:Male
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:6429+1G>T CYS967TER
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
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