Name細胞名稱：NTCC? GM03193 DYSKERATOSIS CONGENITA, X-LINKED; DKC | DYSKERIN; DKC1 B-Lymphocyte Cell Line
先天性角化不良，X 連鎖； DKC| DYSKIN； DKC1細胞株
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分類：B-Lymphocyte
ID編號:NTCC?-GM03193
Size/Quantity數量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race: White
Age年齡:15 YR
Gender性別:Male
Cell Type細胞類型: DYSKERATOSIS CONGENITA, X-LINKED; DKC | DYSKERIN; DKC1
Affected State:Yes
Product:LCL
Gene:DKC1
Mutations突變:THR66ALA
Ethnicity:DUTCH/WELSH
Family:515
Relationship:proband
Karyotype:
Tissue Type組織來源:Blood
Complete Growth Medium完全培養基: BioVector? Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
References參考文獻:

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