GM23506 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® GM23506 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 phosphokinase (2195); other testing includes: muscle biopsy and abnormal brain MRI (diffuse white matter changes detected); mild speech delays which have resolved; rolled over at 9 months; held up head up without assistance and sat for short periods at 12 months; unable to stand; hypotonia and muscle weakness; mild left hip dislocation; contractures of fingers and ankles; rigid spine and mild scoliosis; macrocephaly (head circumference = 55cm); heterozygous in exon 61 of the LAMA2 gene for a mutation defined as c.8669dupT (predicted to result in frameshift and premature protein termination); also heterozygous for a variant of uncertain significance in exon 17 (c.2370 T>A) - this variant does not change the amino acid (p.Pro790Pro) but may interfere with exon splicing according to predictive modeling (fruitfly.org); also heterozygous for another variant of uncertain significance in exon 38 (c.5530C>A) which is predicted to result in the amino acid substitution p.Arg1844Ser - based on available evidence and modeling, this change is predicted to be benign; mother is carrier for frameshift mutation (not in repository) and father is carrier for exon 17 mutation (not in repository).
Category分类：B-Lymphocyte
ID编号:NTCC®-GM23506
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:2370T>A 8669dupT
Ethnicity:
Family:3132
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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Email：Biovector@163.com
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