Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Chromosome Abnormalities
dbGaP
Class Disorders of the Nervous System
Quantity 10 µg
Quantitation Method Please see our FAQ
Biopsy Source Arm
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Race Caucasian
Family Member 1
Relation to Proband proband
Confirmation Karyotypic analysis and Case history
ISCN 46,XX,del(17)(p13).ish del(17)(p13.1)(VIJyRM2185-,17ptel180+,LISI-,FLI+,17qtel13+).arr 17p13.3p13.2(513-4229730)x1
Species Homo sapiens
Common Name Human
Remarks Clinically affected; typical facies (bitemporal hollowing, thin downturned upper lip, micrognathia, microcephaly, high arched palate); ventricular septal defect; cell line initially noted additional diagnosis of a translocated chromosome, as it was submitted with the following karyotype: 46,XX,-17,+der(17),t(7;17)(p22.3;p13.2)pat; upon further analysis of several passages with advanced cytogenomic techniques, it was confirmed the translocation was not present in the cell line and this diagnosis has been subsequently removed.
PDL at Freeze 6
Passage Frozen 6
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 
Cytogenetics Chromosome 17: DELETION Aneuploid Segment (-).ish del(17)(pter->p13.3::p13.1->qter)
Chromosome 17: DERIVATIVE CHROMOSOME Aneuploid Segment (-)17pter>17p13
Chromosome 7: DERIVATIVE CHROMOSOME Aneuploid Segment (+)7pter>7p22
Chromosome 7: DERIVATIVE CHROMOSOME Trisomic Segment 7pter>7p22
Remark Clinically affected; typical facies (bitemporal hollowing, thin downturned upper lip, micrognathia, microcephaly, high arched palate); ventricular septal defect; cell line initially noted additional diagnosis of a translocated chromosome, as it was submitted with the following karyotype: 46,XX,-17,+der(17),t(7;17)(p22.3;p13.2)pat; upon further analysis of several passages with advanced cytogenomic techniques, it was confirmed the translocation was not present in the cell line and this diagnosis has been subsequently removed.
Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013
PubMed ID: 23665875
Passage Frozen 6
Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids
Serum 10% fetal bovine serum Not inactivated
Substrate None specified