NTCC® NA13425 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA13425

Name：NTCC® NA13425 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA13425
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: 7 YR
Gender性别: Male
Description描述: EHLERS-DANLOS SYNDROME, TYPE VI | PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PLOD1
Remarks: Mexican-American; hemifacial asymmetry & disloc of wrist & hip at birth; myopia, hyperextensible, soft & velvety skin, & hypotrophic wound healing at age 6; lysyl hydroxylase/prolyl hydroxylase is 24% of norm; donor subject is a compound heterozygote: one allele has a 3 bp deletion of the lysyl hydroxylase (PLOD1) gene that resulted in loss of residue glu532 [Glu532Del] and the second allele has a G>A change that produced a gly678-to-arg codon change in a highly conserved region of the enzyme
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: PLOD1
Disease疾病类型:
Mutations突变: 3-BP DEL, GLU532DEL GLY678ARG
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