GM26652 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1 | MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7 Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM26652 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1 | MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7 Cell Line
家族性肥厚型心肌病，1； CMH1 |肌球蛋白，重链 7，心肌，β； MYH7细胞株
Description描述：Clinically affected; asymptomatic when heart murmur was detected at age 59; dyspnea on exertion walking up flights of stairs; diffuse myalgias; premature beats shown to be PVCs in the past; dizziness when bending over and arising too fast; heart examination revealed a grade 2 medium pitched midsystolic murmer heard best along the left sternal border that increases in intensity with Valsalva's maneuver; mid cavitary obstruction; EKG showed mild sinus bradycardia; small narrow Q waves in leads V1 through V3 and larger Q waves although narrow in lead 1 and lead aVL; T wave abnormalities in leads 3 and aVF; transthoracic echocardiogram at age 62 showed for left ventricle: systolic function was vigorous; wall thickness mildly increased; ejection fraction estimated to be 70%; wall thickness mildly increased; asymmetric hypertrophy of the septum; mid cavity obliteration at rest but no significant gradient in mid cavity or LVOT; left atrium: mildly dilated; right ventricle: systolic pressure was at the upper limits of normal; estimated peak pressure was 37 mmHg; Medications: nasal pain; gabapentin; and trazodone taken at night; family history shows maternal grandfather: affected and had sympthomology; died of heart failure in mid sixties; mother affected: asymptomatic until about age 60; diagnosed with IHSS after adverse reaction to anesthesia; got dual chamber pacemaker with AV internal set to maximize CO; sister: asymptomatic until 55 years old; had myomectomy; got pacemaker; tested positive for MYH7 class 1 variant (Leu908 Val); second sister: cardiac arrest at age 14; 3 surgeries to reduce left ventricle size; heart dilated; heart transplant at age 45; symptoms started as thickened intraventricular septum with the thickest area including the bundle of HIS below aortic valve; subaortic stenosis developed blocking outflow during systole; mitral regurge heard as murmur; third sister: asymptomatic; family member samples not in repository; lymphoblast GM26651. No genetic testing done for the proband.
Category分类：Fibroblast
ID编号:NTCC®-GM26652
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:63 YR
Gender性别:Female
Cell Type细胞类型: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1 | MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7
Affected State:Yes
Product:Fibroblast
Gene:MYH7
Mutations突变:LEU908VAL
Ethnicity:English, Irish, German, French
Family:3381
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
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