NTCC® NA04235 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA04235

Name：NTCC® NA04235 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA04235
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: 5 MO
Gender性别: Male
Description描述: HYPOPHOSPHATASIA, INFANTILE | ALKALINE PHOSPHATASE, LIVER; ALPL
Remarks: Low serum alkaline phosphatase; high urinary phosphoethanolamine; a sib died at age 5 mos from same disease; shows bowing of the long bones & abnormal metaphyses; deficient fibroblast alkaline phosphatase activity; donor subject is a compound heterozygote for two mutations in the ALPL gene: one allele carries a C-to-T transition at nucleotide 387 (387C>T) in exon 4 leading to substitution of cysteine for arginine at amino acid 54 [ARG54CYS (R54C)] and a second allele carries a A-to-C transversion at nucleotide 1057 (1057A>C) of exon 9 resulting in substitution of alanine for asp277 [ASP277ALA (D227A).
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: ALPL
Disease疾病类型:
Mutations突变: ARG54CYS ASP277ALA
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