GM12318 NORRIE DISEASE; NDP - 310600 | NORRIN CYSTINE KNOT GROWTH FACTOR NDP; NDP B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM12318 NORRIE DISEASE; NDP - 310600 | NORRIN CYSTINE KNOT GROWTH FACTOR NDP; NDP B-Lymphocyte Cell Line
诺里病；新民主党 - 310600 |诺林胱氨酸结生长因子 NDP；新民主党细胞株
Description描述：Costa Rican; corneal opacity; atrophy of iris; catarct; nonreactive pupil; fibrous tiss covers retina; diffuse chorioretinal atrophy; severe sensorineural hearing loss with high frequency component; 2 affected brothers; son of GM12315; the donor subject carries a missense mutation in the NDP gene due to a C-to-T transition (CTC>TTC) at nucleotide position 589 which results in the substitution of phenylalanine for leucine [LEU61PHE (L61F)] in exon 3.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM12318
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: Other
Age年龄:44 YR
Gender性别:Male
Cell Type细胞类型: NORRIE DISEASE; NDP - 310600 | NORRIN CYSTINE KNOT GROWTH FACTOR NDP; NDP
Affected State:Yes
Product:LCL
Gene:NDP
Mutations突变:LEU61PHE
Ethnicity:COSTA RICAN
Family:1488
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 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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