Name細胞名稱：NTCC? GM50276 CHROMOSOME DELETION | COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02 B-Lymphocyte Cell Line
染色體缺失 |副本編號變異 (CNV) 參考面板 02細胞株
Description描述：Hyperbilirubinaemia at birth due to ABO incompatibility; mild aortic stenosis; developed generalized tonic-clonic seizures at age 17 months with fever; developmental delay; speech delay; microcephaly; plagiocephaly; midfacial hypoplasia; misshapen ears with curvature of the pinnae and a slight decrease in the palpebral folds; father (GM50275) also has 5p14 deletion; mother's karyotype is normal
Category分類：B-Lymphocyte
ID編號:NTCC?-GM50276
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:
Age年齡:
Gender性別:Male
Cell Type細胞類型: CHROMOSOME DELETION | COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
Affected State:
Product:LCL
Gene:
Mutations突變:
Ethnicity:
Family:1961
Relationship:proband
Karyotype:46,XY,del(5)(p14p14)pat.ish del(5)(p14p14)(189N21+).arr 1p36.32p36.31(4325610-10925166)x1,5p14.3p14.1(18601001-27465930)x1 pat
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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