Name細胞名稱：NTCC? GM04235 HYPOPHOSPHATASIA, INFANTILE | ALKALINE PHOSPHATASE, LIVER; ALPL Cell Line
嬰兒低磷酸酯酶癥 |堿性磷酸酶，肝臟； ALPL細胞株
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分類：Fibroblast
ID編號:NTCC?-GM04235
Size/Quantity數量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race: White
Age年齡:5 MO
Gender性別:Male
Cell Type細胞類型: HYPOPHOSPHATASIA, INFANTILE | ALKALINE PHOSPHATASE, LIVER; ALPL
Affected State:Yes
Product:Fibroblast
Gene:ALPL
Mutations突變:ARG54CYS ASP277ALA
Ethnicity:
Family:688
Relationship:proband
Karyotype:
Tissue Type組織來源:
Complete Growth Medium完全培養基: BioVector? Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent Complete Medium
Subculturing傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
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
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