Name細胞名稱：NTCC? GM11759 GLYCOGEN STORAGE DISEASE II B-Lymphocyte Cell Line
糖原貯積病 II細胞株
Description描述：Clinically affected; progressive muscle weakness; acid alpha-1,4-glucosidase deficiency; donor subject is a compound heterozygote: one allele has a T>G transversion at position -13 of the acceptor site of intron 1 of the GAA gene (c.-32-13T>G) resulting in alternatively spliced transcripts with deletion of the first coding exon, exon 2; the second allele has a C>T transition at nucleotide 1880 (c.1880C>T) resulting in the substitution of phenylalanine for serine at codon 627 [Ser627Phe (S627F)]
Category分類：B-Lymphocyte
ID編號:NTCC?-GM11759
Size/Quantity數(shù)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:46 YR
Gender性別:Female
Cell Type細胞類型: GLYCOGEN STORAGE DISEASE II
Affected State:Yes
Product:LCL
Gene:GAA
Mutations突變:IVS1AS, T>G, -13 SER627PHE
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:Blood
Complete Growth Medium完全培養(yǎng)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(yǎng)條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數(shù)據(jù):
References參考文獻:

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