NTCC® NA23651 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA23651

Name：NTCC® NA23651 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA23651
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: SELENON-RELATED MYOPATHY; RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1 | SELENOPROTEIN N, 1; SEPN1
Remarks: Clinically affected; onset of symptoms before age 2 years; diagnosed by muscle biopsy and muscle imaging (MRI); normal creatine kinase; no developmental delay; left ventricle shortening fraction is 32%; donor subject is homozygous for a 1 bp duplication at nucleotide 713 in exon 5 of the SEPN1 gene (713dupA) predicted to result in a frameshift and premature protein termination (p.Asn238LysfsStop63); LCL from same subject is GM24369.
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: SEPN1
Disease疾病类型:
Mutations突变: 713dupA (c.713_714Ins)
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