Name：NTCC? NA22051 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA22051
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: 29 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; big eyes; soft auricles; had palate expanded; micrognathia; high palate; blue sclerae; downsloping ribs; grade 3/6 murmur in USB; cyanosis; left foot is colder than right; soft skin; cigarette paper scars; easy bruising; discolored scars on legs; upper thoracic scoliosis; kyphosis; hyperextensibility in shoulders, elbows, knees, and CMC, MCP, PIP and DIP joints; pes planus; genu valga; migraines; chest pain is movement related; occasional abdominal pain and bloating; in the right M2 segment of middle cerebral artery there is a slight bulbous appearance of proximal branch; minimal disc disease from C3-7, dural ectasia in lower thoracic spine and lumbar with eccentric nucleus pulposus; disc desiccation at L4-S1; small hemangioma in S2 vertebral body; diffuse disc buldge at L4-5; donor subject has a G>A transition at nucleotide 2123 in exon 32 of the COL3A1 gene (c.2123G>A) resulting in the substitution of aspartic acid for glycine at codon 708 [Gly708Asp (G708D)]
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: GLY708ASP
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