Name細胞名稱：NTCC? GM22113 PROPIONIC ACIDEMIA B-Lymphocyte Cell Line
丙酸血癥細胞株
Description描述：Clinically affected; newborn screened and diagnosed at 1 day of age; failure to thrive; affected sister is GM22112; tachypnea; slow gut motility; g-tube; infrequent vomiting; grand mal seizures; acute anemia; immune deficiency; asthma; short stature; broken left arm/elbow; walked at 2 years of age; talked at age 18 months; cognitive ability is moderately impaired; episodes of ketoacidosis once a month or more; chronic hyperammonemia; on metabolic formula and levocarnitine; donor subject is homozygous for a 14 bp deletion and a 12 bp insertion at nucleotide 1218 in exon 12 of the PCCB gene [c.1218_1231delinsTAGAGCACAGGA (c.1218del14ins12)] resulting in a frameshift and stop codon at Gly406 (Gly406fs)
Category分類：B-Lymphocyte
ID編號:NTCC?-GM22113
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: PROPIONIC ACIDEMIA
Affected State:Yes
Product:LCL
Gene:PCCB
Mutations突變:12-BP INS, 14-BP DEL, NT1218
Ethnicity:
Family:2776
Relationship:sister
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
NTCC典型培養物保藏中心
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