GM02213 PORPHYRIA, ACUTE INTERMITTENT | HYDROXYMETHYLBILANE SYNTHASE; HMBS B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM02213 PORPHYRIA, ACUTE INTERMITTENT | HYDROXYMETHYLBILANE SYNTHASE; HMBS B-Lymphocyte Cell Line
急性间歇性卟啉症 |羟甲基双烷合成酶； HMBS细胞株
Description描述：Deficient uroporphyrinogen-I synthetase; active AIP; donor subject is heterozygous for a C>T transition at nucleotide 499 in exon 10 of the HMBS gene (499C>T) resulting in the substitution of tryptophan for arginine at codon 167 [Arg167Trp (R167W)]
Category分类：B-Lymphocyte
ID编号:NTCC®-GM02213
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:62 YR
Gender性别:Female
Cell Type细胞类型: PORPHYRIA, ACUTE INTERMITTENT | HYDROXYMETHYLBILANE SYNTHASE; HMBS
Affected State:Yes
Product:LCL
Gene:HMBS
Mutations突变:ARG167TRP
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
NTCC典型培养物保藏中心
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