Name：NTCC? NA21662 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA21662
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: 40 YR
Gender性別: Female
Description描述: EHLERS-DANLOS SYNDROME: TYPE IV; ARTERIAL, ECCHYMOTIC TYPE | COLLAGEN, TYPE III, ALPHA-1; COL3A1
Remarks: Clinically affected; abnormal motility of procollagen III; migraines resolved after pill; slight hearing loss; history of blood in urine; abnormal nasal bridge; micrognathia; blue-grey sclerae; heart murmur; midsystolic click; cyanosis; varicosities in lower legs; blood pressure 104/44; soft translucent velvety skin; piezogenic papules; scoliosis; hyperextension of shoulders, hips and knees; limited neck mobility; pes planus; disc disease noted at C4-C5 and C5-C6 with mild spinal canal stenosis; see GM21663 Fibroblast; donor subject is heterozygous for a G>A change at nucleotide 1618 of the COL3A1 gene (c.1618G>A) resulting in a substitution of arginine for glycine at codon 373 [Gly373Arg (G373R)]
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: GLY373ARG
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