Name細胞名稱：NTCC? GM10653 GLUTARICACIDEMIA I Cell Line
戊二酸血癥 I細胞株
Description描述：Expired at age 12; infantile onset of progressive neuromyopathy with progressive myotonia, athetosis, dystonic posturing, and inability to speak; liver shows absence of glutaryl-CoA dehydrogenase activity; 2 similarly affected sibs; P2 at CCR; donor subject is is a compound heterozygote: the paternal allele has a T>C transition at nucleotide 572 in exon 6 of the GCDH gene (c.572T>C) resulting in a substitution of threonine for methionine at codon 191 [Met191Thr (M191T)]; the maternal allele has a mutation in intron 2 (c.127+48T>C) which may or may not be pathogenic
Category分類：Fibroblast
ID編號:NTCC?-GM10653
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:12 YR
Gender性別:Female
Cell Type細胞類型: GLUTARICACIDEMIA I
Affected State:Yes
Product:Fibroblast
Gene:GCDH
Mutations突變:IVS2+48T>C MET191THR
Ethnicity:
Family:1245
Relationship:proband
Karyotype:
Tissue Type組織來源:
Complete Growth Medium完全培養基: BioVector? Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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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