GM16459 18Q- SYNDROME | CHROMOSOME DELETION | COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM16459 18Q- SYNDROME | CHROMOSOME DELETION | COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02 B-Lymphocyte Cell Line
18Q-综合症|染色体缺失 |副本编号变异 (CNV) 参考面板 02细胞株
Description描述：Line JL241; atypical 18q- Syndrome; donor subject [patient 7 in Mahr et al. (Am. J. Med. Genet. 67: 172-178, 1996)_x000D_ and case 21 in Strathdee et al. (Am. J. Med. Genet. 59: 476-483, 1995)] exhibited decreased growth, malformed ears, prognathism, micropenis, seizures, strabismus, developmental delay, and retardation [full scale_x000D_ intelligence quotient (FSIQ) = 55]. Donor subject had multiple psychiatric hospitalizations; Vineland Adaptive Behavior Scale was 41; brain MRI was abnormal. Parental line of hybrid GM16460.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM16459
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race:
Age年龄:
Gender性别:Male
Cell Type细胞类型: 18Q- SYNDROME | CHROMOSOME DELETION | COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
Affected State:
Product:LCL
Gene:
Mutations突变:
Ethnicity:
Family:
Relationship:proband
Karyotype:46,XY,der(18)t(7;18)(p22;q22.1)[21]/46,XY,der(1)t(1;2)(q43;q33),der(18)t(7;18)(p22;q22.1)[19].ish der(1)t(1;2)(q43;q33)(D1S3738-,D2S447+),der(18)t(7;18)(p22;q22.1)(wcp18+,D18S552+,D18S1390-,G31341+).arr 1q43(237416656-247185973)x1锟?,2q33.1q37.3(197827635-242716210)x2锟?,7p22.3p22.2(52898-4348872)x3,18q22.1q23(63455659-76116029)x1
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
References参考文献:

Supplier供应商:BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
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