Name：NTCC? NA13425 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA13425
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: 7 YR
Gender性別: 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其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: PLOD1
Disease疾病類型:
Mutations突變: 3-BP DEL, GLU532DEL GLY678ARG
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