GM03193先天性角化不良，X 连锁； DKC| DYSKIN； DKC1 B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM03193 DYSKERATOSIS CONGENITA, X-LINKED; DKC | DYSKERIN; DKC1 B-Lymphocyte Cell Line
先天性角化不良，X 连锁； DKC| DYSKIN； DKC1细胞株
Description描述：Mild anisopoikilocytosis and mild oval macrocytosis; 2 affected brothers and 3 affected maternal uncles; donor subject is hemizygous for an A>G transition at nucleotide 193 in exon 4 of the DKC1 gene resulting in the substitution of alanine for threonine at codon 66 [Thr66Ala (T66A)]
Category分类：B-Lymphocyte
ID编号:NTCC®-GM03193
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:15 YR
Gender性别:Male
Cell Type细胞类型: DYSKERATOSIS CONGENITA, X-LINKED; DKC | DYSKERIN; DKC1
Affected State:Yes
Product:LCL
Gene:DKC1
Mutations突变:THR66ALA
Ethnicity:DUTCH/WELSH
Family:515
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:

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