GM11576全羧化酶合成酶缺乏症 |全羧化酶合成酶； HLCS 羊水 羊水衍生细胞系Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM11576 HOLOCARBOXYLASE SYNTHETASE DEFICIENCY | HOLOCARBOXYLASE SYNTHETASE; HLCS Amniotic fluid Cell Line
全羧化酶合成酶缺乏症 |全羧化酶合成酶； HLCS细胞株
Description描述：Amniocytes have <1% of control holocarboxylase synthetase activity; pyruvate carboxylase, propionyl CoA carboxylase, & 3-methylcrotonyl CoA carboxylase enzyme activities were also very low; 2 affected sibs; slow growing culture; donor subject is a compound heterozygote: one allele has a IVS10+5G>A mutation in the HCLS gene and a second allele has a proline for leucine substitution at codon 514 [Leu514Pro (L514P)]
Category分类：Amniotic fluid-derived cell line
ID编号:NTCC®-GM11576
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:16 FW
Gender性别:Female
Cell Type细胞类型: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY | HOLOCARBOXYLASE SYNTHETASE; HLCS
Affected State:Yes
Product:Amniotic fluid-derived cell line
Gene:HLCS
Mutations突变:IVS10+5G>A LEU514PRO
Ethnicity:GERMAN
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Amniotic Fluid Culture Medium 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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