NTCC® NA01355 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA01355

Name：NTCC® NA01355 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA01355
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: 13 YR
Gender性别: Female
Description描述: HYPERCHOLESTEROLEMIA, FAMILIAL; FHC
Remarks: Clinically affected; symptom onset and diagnosis at 7 years of age; xanthomas overlying each patella; history of severe hypercholesterolemia (625 mg/dL at age 9; highest measurement: 700 mg/dL; lowest measurement after treatment with Atromid, choloxin, cholestyramine: 500 mg/dL; cholesterol eventually decreased to 425 mg/dL following ileal bypass performed at age 10); xanthomas resolved following ileal bypass; low density lipoprotein receptor activity found to be partially negative (receptor activity measured using: binding, internalization, degradation, 14 C oleate incorporation, biosynthesis of 35 S methionine, and ligand blotting); possibly a severe heterozygote, mild homozygote, or double heterozygote; treatments: low-fat and low-cholesterol diet; nicotinic acid from age 10 to age 13; family history: affected mother (cholesterol 359 mg/dL, no xanthomas) (GM01354), affected father (cholesterol 334 mg/dL, no xanthomas) (GM01385), unaffected brother (GM01386), and affected maternal grandmother (hypercholesterolemia but no xanthomas) (not in repository), paternal grandfather died at age 44 from a heart attack (not in repository).
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
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Mutation description突变描述:
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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