Name細胞名稱：NTCC? GM09217 CRIGLER-NAJJAR SYNDROME | UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 B-Lymphocyte Cell Line
克里格勒-納賈爾綜合征 | UDP-糖基轉移酶 1 家族，多肽 A1； UGT1A1細胞株
Description描述：First cousin of GM09218; persistent unconjugated hyperbilirubinemia; no evidence of neurologic or cognitive impairment; parents are third cousins; the donor subject is homozygous for a C-to-T transition (TCC>TTC) in exon 4 of the UGT1A1 gene which results in a substitution of phenylalanine for serine at codon 376 [SER376PHE (S376F)].
Category分類：B-Lymphocyte
ID編號:NTCC?-GM09217
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:7 YR
Gender性別:Female
Cell Type細胞類型: CRIGLER-NAJJAR SYNDROME | UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1
Affected State:Yes
Product:LCL
Gene:UGT1A1
Mutations突變:SER376PHE
Ethnicity:ENGLISH
Family:2123
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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