GM10642干燥综合征 |醛脱氢酶，家族 3，亚家族 A，成员 2； ALDH3A2 成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM10642 SJOGREN-LARSSON SYNDROME | ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 2; ALDH3A2 Cell Line
干燥综合征 |醛脱氢酶，家族 3，亚家族 A，成员 2；乙醛脱氢酶3A2细胞株
Description描述：Mildly affected with congenital ichthyosis, mental retardation, & spastic diplegia of lower extremities; fibroblasts have 8% of control fatty alcohol:NAD+ oxidoreductase activity using octadecanol as substrate; donor subject is a compound heterozygote: allele 1 has a 2 bp deletion at nucleotide 1297 of the ALDH3A2 gene (1297_1298delGA) with consequent premature termination at amino acid 434 and the other allele carries an as yet unidentified mutation.
Category分类：Fibroblast
ID编号:NTCC®-GM10642
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:5 YR
Gender性别:Male
Cell Type细胞类型: SJOGREN-LARSSON SYNDROME | ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 2; ALDH3A2
Affected State:Yes
Product:Fibroblast
Gene:ALDH3A2
Mutations突变:2-BP DEL, 1297GA
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Dulbecco Modified Eagles Medium (high glucose) 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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