NTCC® NA23650 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA23650

Name：NTCC® NA23650 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA23650
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: 1 MO
Gender性别: Female
Description描述: CENTRAL CORE DISEASE OF MUSCLE | RYANODINE RECEPTOR 1; RYR1
Remarks: Clinically affected; onset of symptoms before age 2 years; holds head up without assistance; turned in bed without assistance; sat without assistance at age 11 months; maximal motor function: sitting unsupported for less than 1 hour; normal creatine kinase; muscle biopsy and muscle imaging (MRI) performed: rare core like structures identified; donor subject is a compound heterozygote: the paternal allele has a 13 bp deletion at nucleotide 7463 in exon 47 of the RYR1 gene (c.7463_7475del13) predicted to result in a frameshift and premature protein termination (p.Pro2488HisfsX39); the maternal allele has a C>T transition at nucleotide 1201 in exon 12 (c.1201C>T) resulting in the substitution of cysteine for arginine at codon 401 [Arg401Cys (R401C)]; Treatments: breathing treatment medications.
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: RYR1
Disease疾病类型:
Mutations突变: 7463_7475del13 ARG401CYS
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