Name細胞名稱：NTCC? GM23830 CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME | ISODICENTRIC CHROMOSOME B-Lymphocyte Cell Line
染色體 15Q11-Q13 重復綜合癥 |等中心染色體細胞株
Description描述：Clinically affected; diagnosed at age 2 years; low muscle tone; heart murmur, VSD; slightly enlarged heart; tip toe walking; global developmental delay; no speech; slight epicanthal fold on right eye; prominent, simple ears with poorly formed antihelices; Tanner stage I; pes planus; mildly decreased tone; sat at 10 months; crawled at 12 months; walked at 23 months; Bayley scales of infant and toddler development: 58 motor performance, 65 for communication skills, and 75 for cognitive development; wears ankle braces some of the time; physical therapy; CGH result: 47, XX, +psu idic (15) (SNRPN++) .nuc ish (SNRPNx4) .arr 15q11.1q13.1 (18, 362,555-26, 208, 646, B18)x4.
Category分類：B-Lymphocyte
ID編號:NTCC?-GM23830
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:3 YR
Gender性別:Female
Cell Type細胞類型: CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME | ISODICENTRIC CHROMOSOME
Affected State:Yes
Product:LCL
Gene:
Mutations突變:
Ethnicity:GERMAN
Family:3075
Relationship:proband
Karyotype:47,XX,+idic(15)(q13.1)[7]/46,XX[3].arr 15q11.1q13.1(18276328-26752944)x4
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
Tel電話：400-800-2947
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