Name細胞名稱：NTCC? GM02213 PORPHYRIA, ACUTE INTERMITTENT | HYDROXYMETHYLBILANE SYNTHASE; HMBS B-Lymphocyte Cell Line
急性間歇性卟啉癥 |羥甲基雙烷合成酶； HMBS細胞株
Description描述：Deficient uroporphyrinogen-I synthetase; active AIP; donor subject is heterozygous for a C>T transition at nucleotide 499 in exon 10 of the HMBS gene (499C>T) resulting in the substitution of tryptophan for arginine at codon 167 [Arg167Trp (R167W)]
Category分類：B-Lymphocyte
ID編號:NTCC?-GM02213
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:62 YR
Gender性別:Female
Cell Type細胞類型: PORPHYRIA, ACUTE INTERMITTENT | HYDROXYMETHYLBILANE SYNTHASE; HMBS
Affected State:Yes
Product:LCL
Gene:HMBS
Mutations突變:ARG167TRP
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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