Name：NTCC? NA23650 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA23650
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 1 MO
Gender性別: 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其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: RYR1
Disease疾病類型:
Mutations突變: 7463_7475del13 ARG401CYS
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net