GM12123 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA_x000D_ | AAAS GENE; AAAS Muscle, Unspecified Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM12123 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA_x000D_ | AAAS GENE; AAAS Muscle, Unspecified Cell Line
贲门失弛缓症-艾迪索尼亚症-阿拉克瑞玛综合征； AAA |美国科学促进会基因；美国科学促进会细胞株
Description描述：Muscle biopsy fibroblast culture; bilateral adrenal gland atrophy; esophageal achalasia; deficient tear production; mental retardation; expired at age 25; an affected sister died at age 3; product of consanguineous marriage; donor subject has a splice-site mutation in the donor site of intron 14 of the AAAS (ALADIN) gene [IVS14+1>C]; there were two different aberrantly spliced AAAS transcripts, the predicted protein products of which lacked the C-terminal, NPC-targeting domain
Category分类：Fibroblast
ID编号:NTCC®-GM12123
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:
Age年龄:25 YR
Gender性别:Male
Cell Type细胞类型: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA_x000D_ | AAAS GENE; AAAS
Affected State:Yes
Product:Fibroblast
Gene:AAAS
Mutations突变:IVS14+1>C
Ethnicity:HISPANIC
Family:1455
Relationship:proband
Karyotype:
Tissue Type组织来源:Muscle
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
NTCC典型培养物保藏中心
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