Name細(xì)胞名稱(chēng)：NTCC? GM22010 PROPIONIC ACIDEMIA | PROPIONYL-COA CARBOXYLASE, ALPHA SUBUNIT; PCCA B-Lymphocyte Cell Line
丙酸血癥 |丙酰輔酶A羧化酶，α亞基； PCCA細(xì)胞株
Description描述：Clinically affected; diagnosed in first week of life; no family history of PA; acute pancreatitis; normal gut motility; G-tube for 100% of feeding; vomitting at least once a week; had seizures only during birth crisis; chronic neutropenia; immune deficiency; first walked at 20 months of age; uses assisting language technology; moderately impaired cognitive ability; IQ of 41; chronic hyperammonemia (<2 times normal); currently on metabolic formula and levocarnitine; donor subject is homozygous for a G216fs mutation in exon 8 of the PCCA gene
Category分類(lèi)：B-Lymphocyte
ID編號(hào):NTCC?-GM22010
Size/Quantity數(shù)量: 1 Flask/2 Vials
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT/Dry Ice
Storage儲(chǔ)存方式: RT/Liquid Nitrogen
Race: White
Age年齡:7 YR
Gender性別:Male
Cell Type細(xì)胞類(lèi)型: PROPIONIC ACIDEMIA | PROPIONYL-COA CARBOXYLASE, ALPHA SUBUNIT; PCCA
Affected State:Yes
Product:LCL
Gene:PCCA
Mutations突變:G216fs
Ethnicity:
Family:2742
Relationship:proband
Karyotype:
Tissue Type組織來(lái)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(xiàn):

Supplier供應(yīng)商:BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
Tel電話(huà)：400-800-2947
Email：Biovector@163.com
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