Name：NTCC? NA21762 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA21762
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: 25 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; iliac aneurysm; abnormal auricles (attached lobes); asymmetric nose; high palate; blue sclerae; carotid bruit right; blood pressure 129/74; bruising; scoliosis; hyperextension of shoulders, elbows and knees; pes planus; genu valga; Beighton score 2/9; disc extrusion C6-C7; disc disease C5-C6 and L3-S1; facet arthrosis; lateral disc buldge T6-T7; affected father is GM21566; donor subject is heterozygous for a C>T transition at nucleotide 3070 in exon 43 of the COL3A1 gene (c.3070C>T) resulting in the substitution of a stop codon for an arginine at codon 1024 [Arg1024Ter (R1024X)]
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: ARG1024TER
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