NTCC® NA26147 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA26147

Name：NTCC® NA26147 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA26147
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: 33 YR
Gender性别: Female
Description描述: MYOPATHY, CONGENITAL; TYPE UNKNOWN | RYANODINE RECEPTOR 1; RYR1
Remarks: Unaffected carrier; asymptomatic; Sanger sequencing of the RYR1 gene revealed a heterozygous c.4766A>C (p.Q1589P) variant of unknown clinical significance; same variant also present in child (not in repository); the subject is also heterozygous for the following variants of unknown clinical significance in disease genes related to the clinical phenotype: c.4078G>A (p.V1360I) in the MYH7 gene, and c.2039C>T (p.P680L) in the FLNA gene on the X chromosome.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: FLNA MYH7 RYR1
Disease疾病类型:
Mutations突变: c.2039C>T p.Q1589P V1360I
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