Name細胞名稱：NTCC? GM22979 CHROMOSOME 1P36 DELETION SYNDROME B-Lymphocyte Cell Line
染色體 1P36 缺失綜合征細胞株
Description描述：Bitemporal narrowing; sloping forehead; metopic synostosis; microcephaly; blepharophimosis; mild 2-3 toe syndactyly; atrial septal defect (ASD); rectal stenosis; developmental delay-height, weight and head circumference all below 3rd percentile at 32 months; rolled over at 6 months, sat unassisted at 12-13 months, pulled to a stand at 24-26 months and began cruising at 32 months, able to scribble and say a few words at 32 months; subject has a complex rearrangement involving deletion, duplication and triplication of the 1p36 region-Array CGH revealed copy number gains indicative of a ~1.25 Mb terminal triplication followed by an ~4Mb duplication,FISH revealed that RP5-857K21 (the most distal clone on the 1.36 contig) was deleted-parental analysis revealed that this deletion is de novo and not a polymorphic variant, parental chromosomes were normal.
Category分類：B-Lymphocyte
ID編號:NTCC?-GM22979
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:Female
Cell Type細胞類型: CHROMOSOME 1P36 DELETION SYNDROME
Affected State:Yes
Product:LCL
Gene:
Mutations突變:
Ethnicity:
Family:2948
Relationship:proband
Karyotype:46,XX,dup(1)(pter->p36.3::p36.3->qter)
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
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