Name：NTCC? NA27131 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA27131
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: 29 YR
Gender性別: Male
Description描述: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4 | MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3
Remarks: Clinically affected; Symptoms onset at age 25 including exertional chest pain, echocardiography shows stable morphology, cardiac function at the low end of normal range; Treatment: beta-blocker and Ca-channel blockers were not effective in managing chest pain and are no longer being taken, moderate-intensity exercise only; Sequencing revealed a heterozygous genetic variant in MYBPC3 gene (c.1577_1580dupCACT) resulting in a shift of reading frame starting at codon Cysteine 528 (p.Cys528ThrfsX4); Several family members share the same MYBPC3 mutation; Pedigree established: carrier heterozygote father, carrier heterozygote paternal grandfather who died from idiopathic pulmonary fibrosis and underwent quadruple coronary bypass surgery, 2 carrier paternal aunts (1 of which with preclinical HCM), 1 HCM clinically affected cousin, and 1 preclinical HCM carrier cousin
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: MYBPC3
Disease疾病類型:
Mutations突變: c.1577_1580dupCACT (p.C528TfsX4)
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