NTCC® NA23507 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA23507

Name：NTCC® NA23507 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA23507
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 3 YR
Gender性别: Male
Description描述: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A | LAMININ, ALPHA-2; LAMA2
Remarks: 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.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: LAMA2
Disease疾病类型:
Mutations突变: 6429+1G>T CYS967TER
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
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