Name細胞名稱：NTCC? GM16413 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 B-Lymphocyte Cell Line
面肩肱型肌營養(yǎng)不良癥 1； FSHD1細胞株
Description描述：Clinically affected; D4Z4 fragment size was determined using Southern Blot analysis with probe p13E-11, which is localized immediately proximal to D4Z4, after double digestion of genomic DNA with EcoRI and BlnI restriction enzymes. This patient carries D4Z4 allele of 22kb on chromosome 4qA corresponding to 4 or less D4Z4 repeats, which is below the ≤10 repeat threshold for a pathogenic allele. The permissive haplotype 4qA carries polyadenylation signal (PAS) as determined using the primers and protocol described by錕絃emmers R.J.F.錕絜t al錕?Science, 2010). The 4qA, 4qB and chromosome 10q haplotype structures were determined by 4A/4A-L/4B subtelomere haplotyping, SSLP haplotyping, and錕?qSTR analysis錕絘s described by錕絃emmers R.J.F.錕絜t al錕?Am J Hum Genet., 2010 and Science, 2010),錕絊nider L. et al (PLoS Genetics, 2010), and錕紹arat-Hourari M. et al (Euro J Hum Genet., 2010)錕絘nd are as follows 4A161/4A-L161, 10A166/10A166; characterization of this line described by S.I. Jones et al, Neuromuscular Disorders (2016), http://dx.doi.org/doi:10.1016/j.nmd.2016.12.007; several affected family members; refer to catalog Family 1939 (Family 11 in the Jones publication).
Category分類：B-Lymphocyte
ID編號:NTCC?-GM16413
Size/Quantity數(shù)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:Male
Cell Type細胞類型: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1
Affected State:Yes
Product:LCL
Gene:
Mutations突變:
Ethnicity:
Family:1939
Relationship:nephew
Karyotype:
Tissue Type組織來源:Blood
Complete Growth Medium完全培養(yǎng)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(yǎng)條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數(shù)據(jù):
References參考文獻:

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