GM03465 CYSTIC FIBROSIS; CF | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR Heart, Pericardium Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM03465 CYSTIC FIBROSIS; CF | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR Heart, Pericardium Cell Line
囊性纤维化; CF |囊性纤维化跨膜电导调节器； CFTR细胞株
Description描述：Pericardium biopsy; has 2 affected sibs; first diagnosed by sweat test at age 10 weeks; pulmonary and hepatic cirrhosis; expired at age 4; 46,XY; same patient as GM03466; donor subject is a compound heterozygote: one allele carries the deltaF508 deletion mutation (Phe508Del) and a second allele carries a G-to-A transition at nucleotide 1784 (1784G>A) which converts the gly-551 codon (GGT) to an asp (GAT), resulting in a missense mutation in exon 11 in the CFTR gene [Gly551Asp (G551D)]
Category分类：Fibroblast
ID编号:NTCC®-GM03465
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:4 YR
Gender性别:Male
Cell Type细胞类型: CYSTIC FIBROSIS; CF | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
Affected State:Yes
Product:Fibroblast
Gene:CFTR
Mutations突变:GLY551ASP PHE508DEL
Ethnicity:
Family:233
Relationship:proband
Karyotype:46,XY
Tissue Type组织来源:Heart
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:

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