GM08369 HEMOPHILIA B; HEMB | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM08369 HEMOPHILIA B; HEMB | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR B-Lymphocyte Cell Line
血友病 B； HEMB | 5,10-@亚甲基四氢叶酸还原酶；甲基四氢叶酸还原酶细胞株
Description描述：Factor IX deficiency diagnosed at age 15 mos; Factor IX level <1%; hemarthroses involving multiple joints & a massive intramuscular hematoma; prolonged PPT; mother & 2 sisters have normal Factor IX levels; donor subject is heterozygous for a C>T mutation at nucleotide 677 in exon 4 of the methylenetetrahydrofolate reductase (MTHFR) gene [677C>T] that results in a substitution of a valine for an alanine at codon 222 [Ala222Val (A222V)]; donor subject is homozygous normal for the R506Q mutation in the F5 gene and for the 20210G>A variant in the prothrombin gene (F2)
Category分类：B-Lymphocyte
ID编号:NTCC®-GM08369
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:17 YR
Gender性别:Male
Cell Type细胞类型: HEMOPHILIA B; HEMB | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
Affected State:Yes
Product:LCL
Gene:MTHFR
Mutations突变:677C>T
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 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
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