NTCC® NA23311 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA23311

Name：NTCC® NA23311 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA23311
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: Female
Description描述: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A | LAMININ, ALPHA-2; LAMA2
Remarks: Clinically affected; symptom onset before 2 years of age; elevated creatine kinase (200-2,000 IU/L); diagnosis confirmed by muscle imaging and biopsy; abnormal white matter in brain by MRI/CT scan; head held up without assistance; turned in bed by age three years; no other milestones have been achieved; night time respiratory support; donor subject is a compound heterozygote: maternal allele has a 2 bp deletion in exon 14 of the LAMA2 gene (2049_2050delAG); the paternal allele has a C>T transition at nucleotide 7732 in exon 55 (7732C>T) resulting in a premature stop at codon 2578 [Arg2578Ter (R2578X)].
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: LAMA2
Disease疾病类型:
Mutations突变: 2049_2050delAG ARG2578TER
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