Name細胞名稱：NTCC? GM25172 NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2 | NEBULIN; NEB B-Lymphocyte Cell Line
線狀肌病 2，常染色體隱性遺傳； NEM2 |星云蛋白；鼻細胞株
Description描述：Clinically affected; symptom onset at birth; achieved/maintained motor functions: held head up without assistance, turned in bed without assistance at age 6 months, sat without assistance at age 8 months, stood without assistance at age 1.5 years, walked with assistance at age 2 years, walked indoors and outdoors unassisted at age 2 years old; gene sequencing of TPM3,TPM2 and NEB genes identified heterozygous mutation defined as c.9619-2A>G near the junction of intron 66 and exon 67 of the NEB gene; subject is also heterozygous for mutation defined as c.24473_24476dupAACA which is predicted to result in a frame shift and premature protein termination (p.His8159GlnfsStop8); respiratory support used during perinatal period; fibroblast is GM26093.
Category分類：B-Lymphocyte
ID編號:NTCC?-GM25172
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: More than one race
Age年齡:4 YR
Gender性別:Male
Cell Type細胞類型: NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2 | NEBULIN; NEB
Affected State:Yes
Product:LCL
Gene:NEB
Mutations突變:c.24473_24476dupAACA c.9619-2A>G
Ethnicity:Chinese/Ashkenazi Jewish
Family:3327
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:

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
Email：Biovector@163.com
http://www.biovector.net