GM04235 HYPOPHOSPHATASIA, INFANTILE | ALKALINE PHOSPHATASE, LIVER; ALPL Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM04235 HYPOPHOSPHATASIA, INFANTILE | ALKALINE PHOSPHATASE, LIVER; ALPL Cell Line
婴儿低磷酸酯酶症 |碱性磷酸酶，肝脏； ALPL细胞株
Description描述：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).
Category分类：Fibroblast
ID编号:NTCC®-GM04235
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:5 MO
Gender性别:Male
Cell Type细胞类型: HYPOPHOSPHATASIA, INFANTILE | ALKALINE PHOSPHATASE, LIVER; ALPL
Affected State:Yes
Product:Fibroblast
Gene:ALPL
Mutations突变:ARG54CYS ASP277ALA
Ethnicity:
Family:688
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
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