GM23053
LCL from B-Lymphocyte
Description:
POTOCKI-LUPSKI SYNDROME; PTLS
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
PIGI Consented Sample
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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Race
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White
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Ethnicity
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Irish/English/German
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Country of Origin
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USA
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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ISCN
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46,XX,dup(17)(p13p11.1).arr 17p13.1p11.1(11096921-22159777)x3
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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 LINE assay |
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| Remarks |
Affected with Potocki-Lupski syndrome and Charcot-Marie Tooth syndrome; hypotonia; breathing problems; gastroesophageal reflux; ADHD; sleep disturbance; abnormal gait; muscle weakness; eye abnormalities; developmental age unknown; frequent ear infections; swallowing problems; excessive choking; difficult to put to bed; problems regulating food intake; treatments include sleep medication and glasses; unaffected mother is GM23054, unaffected father is GM23055, and unaffected brother is GM25576. |
| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021 |
| PubMed ID: 35039224 |
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| 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 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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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