NTCC® NA21995 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA21995

Name：NTCC® NA21995 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA21995
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: 67 YR
Gender性别: Female
Description描述: CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA
Remarks: Clinically affected; height 5 foot 6 inches; bilaterally dislocating patellae during childhood; chronic aches and pains in numerous joints, muscles, and tendons; tight hamstrings; dental crowding; positive wrist sign; mild thoracic scoliosis; long halluces; tight finger joints; straight elbows; genu valgus; under-developed calf muscles; abnormal external ears with an extra piece of cartilage present; myopia with astigmatism; three similarly affected daughters; donor subject has a G>C transversion at nucleotide 3340 in exon 25 of the FBN2 gene (c.3340G>C) resulting in the substitution of histidine for aspartic acid at codon 1114 [Asp1114His (D1114H)]
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: FBN2
Disease疾病类型:
Mutations突变: ASP1114HIS
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
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