Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Biopsy Source Skin
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Family History N
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; able to sit; donor subject is homozygous for deletion of exons 7 and 8 in the SMN1 gene and has 3 copies of the SMN2 gene.
PDL at Freeze 4.58
Passage Frozen 5
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
Gene SMN1
Chromosomal Location 5q12.2-q13.3
Allelic Variant 1 Exon 7 deleted; SPINAL MUSCULAR ATROPHY
Identified Mutation EX7DEL
 
Gene SMN1
Chromosomal Location 5q12.2-q13.3
Allelic Variant 2 Exon 7 deleted; SPINAL MUSCULAR ATROPHY
Identified Mutation EX7DEL
Remark Clinically affected; able to sit; donor subject is homozygous for deletion of exons 7 and 8 in the SMN1 gene and has 3 copies of the SMN2 gene.
Stabley DL, Harris AW, Holbrook J, Chubbs NJ, Lozo KW, Crawford TO, Swoboda KJ, Funanage VL, Wang W, Mackenzie W, Scavina M, Sol-Church K, Butchbach ME, SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR Molecular genetics & genomic medicine3:248-57 2015
PubMed ID: 26247043
No data is available
Passage Frozen 5
Split Ratio 1:5
Temperature 37 C
Percent CO2 10%
Percent O2 AMBIENT
Medium Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated