Name：NTCC? NA21500 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA21500
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: 41 YR
Gender性別: Male
Description描述: EHLERS-DANLOS SYNDROME: TYPE IV; ARTERIAL, ECCHYMOTIC TYPE | COLLAGEN, TYPE III, ALPHA-1; COL3A1
Remarks: Clinically affected; severe skin findings; pain in left knee and right heel; osteoporosis; blue sclerae; quiet bowel sound; carotid bruit left; varicosities; blood pressure 116/64; poor wound healing; bruising; piezogenic papules; mild hyperextension and osteopenia in hips; joint limitations; mild disc herniation at C2-C3 and C3-C4; dural ectasia at L5-S1; anterolisthesis; L4-L5 disc buldge; donor subject has an A>G transversion in the 3' acceptor site of intron 15 of the COL3A1 gene [IVS15-2A>G] resulting in the skipping of exon 16; see GM21501 Fibroblast
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: COL3A1
Disease疾病類型:
Mutations突變: IVS15-2A>G
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