GM04637 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM04637 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 Cell Line
神经病，遗传性感觉和自主神经病，III 型； HSAN3细胞株
Description描述：Clinically unaffected; donor subject is heterozygous for the 2507+6T>C mutation in the IKBKAP gene; this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA; child (not in repository) is affected with hereditary, sensory, and autonomic neuropathy type III (HSAN III).
Category分类：Fibroblast
ID编号:NTCC®-GM04637
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:32 YR
Gender性别:Female
Cell Type细胞类型: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
Affected State:
Product:Fibroblast
Gene:IKBKAP
Mutations突变:c.2204+6T>C (IVS20+6T>C)
Ethnicity:ASHKENAZI
Family:762
Relationship:mother
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
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