GM16459
LCL from B-Lymphocyte
Description:
18Q- SYNDROME
CHROMOSOME DELETION
COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY,der(18)t(7;18)(p22;q22.1)[21]/46,XY,der(1)t(1;2)(q43;q33),der(18)t(7;18)(p22;q22.1)[19].ish der(1)t(1;2)(q43;q33)(D1S3738-,D2S447+),der(18)t(7;18)(p22;q22.1)(wcp18+,D18S552+,D18S1390-,G31341+).arr 1q43(237416656-247185973)x1˜2,2q33.1q37.3(197827635-242716210)x2˜3,7p22.3p22.2(52898-4348872)x3,18q22.1q23(63455659-76116029)x1
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Line JL241; atypical 18q- Syndrome; donor subject [patient 7 in Mahr et al. (Am. J. Med. Genet. 67: 172-178, 1996)
and case 21 in Strathdee et al. (Am. J. Med. Genet. 59: 476-483, 1995)] exhibited decreased growth, malformed ears, prognathism, micropenis, seizures, strabismus, developmental delay, and retardation [full scale
intelligence quotient (FSIQ) = 55]. Donor subject had multiple psychiatric hospitalizations; Vineland Adaptive Behavior Scale was 41; brain MRI was abnormal. Parental line of hybrid GM16460. |
| 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 |
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| Mahr RN, Moberg PJ, Overhauser J, Strathdee G, Kamholz J, Loevner LA, Campbell H, Zackai EH, Reber ME, Mozley DP, Brown L, Turetsky BI, Shapiro RM, Neuropsychiatry of 18q- syndrome. Am J Med Genet67(2):172-8 1996 |
| PubMed ID: 8723044 |
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| Strathdee G, Zackai EH, Shapiro R, Kamholz J, Overhauser J, Analysis of clinical variation seen in patients with 18q terminal deletions. Am J Med Genet59(4):476-83 1995 |
| PubMed ID: 8585568 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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