Name：NTCC? NA17413 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA17413
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: OSTEOGENESIS IMPERFECTA, TYPE IV; OI4 | COLLAGEN, TYPE I, ALPHA-2; COL1A2
Remarks: Clinically affected; white sclerae; good dentition; history of joint laxity; elevated alkaline phosphatase; bone density score for spine and hip (neck) indicates osteoporosis; history of one fracture; donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene [Gly610Cys (G610C)]; affected father is GM17410 (Fibro); same subject as GM17414 (Fibro) and GM27925 (iPSC)
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: COL1A2
Disease疾病類型:
Mutations突變: GLY610CYS
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