Name細胞名稱：NTCC? GM18666 HYPOCHONDROPLASIA; HCH | FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3 B-Lymphocyte Cell Line
軟骨發育不良；六六六六|成纖維細胞生長因子受體 3； FGFR3細胞株
Description描述：Rhizomelic short stature; developmental delays; seizure disorder; donor subject has a C>A transversion at nucleotide 1620 in exon 13 of the FGFR3 gene, resulting in an asn540-to-lys [Asn540Lys (N540K)] substitution in the proximal tyrosine kinase domain of the protein
Category分類：B-Lymphocyte
ID編號:NTCC?-GM18666
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: Hispanic/Latino
Age年齡:2 YR
Gender性別:Male
Cell Type細胞類型: HYPOCHONDROPLASIA; HCH | FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3
Affected State:Yes
Product:LCL
Gene:FGFR3
Mutations突變:ASN540LYS, 1620C>A
Ethnicity:
Family:
Relationship:proband
Karyotype:
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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