Name細胞名稱：NTCC? GM20383 CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3 | CLN3 GENE; CLN3 B-Lymphocyte Cell Line
Ceroid 脂褐質沉著癥，神經元 3，青少年； CLN3 | CLN3基因； CLN3細胞株
Description描述：Clinically affected; vision loss at age 5 years; seizures at age 11 years; movement and intelligence declined at age 12 years; EM showed fingerprint profile; donor subject is a compound heterozygote: one allele has a 1.02 kb deletion including 217 bp of the open reading frame (nucleotides 598-814), corresponding to 2 exons resulting in a frameshift that generates a termination codon 84 bp downstream of the deletion junction [1-KB DEL, NT598] and a second allele has a G>A transition at nucleotide 1020 in exon 11 of the CLN3 gene [1020G>A] resulting in a substitution of lysine for glutamic acid at codon 295 [Glu295Lys (E295K)].
Category分類：B-Lymphocyte
ID編號:NTCC?-GM20383
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:
Age年齡:30 YR
Gender性別:Female
Cell Type細胞類型: CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3 | CLN3 GENE; CLN3
Affected State:Yes
Product:LCL
Gene:CLN3
Mutations突變:1-KB DEL, NT598 GLU295LYS
Ethnicity:
Family:
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:

Supplier供應商:BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
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