NA07072
DNA from Fibroblast
Description:
FRAGILE X MENTAL RETARDATION SYNDROME
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Disorders with Trinucleotide Expansions |
| Class |
X Chromosome Markers |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Lung
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Cell Type
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Fibroblast
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Tissue Type
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Lung
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Ethnicity
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JEWISH
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Family Member
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1
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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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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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| PDL at Freeze |
7.78 |
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Lung biopsy; mother is an obligate carrier for fra(X); 9/50 cord blood lymphocytes showed fra(X); mother is GM06968 Lymphoid; same patient as GM07071; negative for fra(X) in lung tissue |
| Sharma SD, Reddy BK, Pal R, Ritakari TE, Cooper JD, Selvaraj BT, Kind PC, Chandran S, Wyllie DJA, Chattarji S, Astrocytes mediate cell non-autonomous correction of aberrant firing in human FXS neurons Cell reports42:112344 2022 |
| PubMed ID: 37018073 |
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| Das Sharma S, Pal R, Reddy BK, Selvaraj BT, Raj N, Samaga KK, Srinivasan DJ, Ornelas L, Sareen D, Livesey MR, Bassell GJ, Svendsen CN, Kind PC, Chandran S, Chattarji S, Wyllie DJA, Cortical neurons derived from human pluripotent stem cells lacking FMRP display altered spontaneous firing patterns Molecular autism11:52 2019 |
| PubMed ID: 32560741 |
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| Gray SJ, Gerhardt J, Doerfler W, Small LE, Fanning E, An origin of DNA replication in the promoter region of the human fragile X mental retardation (FMR1) gene Molecular and cellular biology27:426-37 2006 |
| PubMed ID: 17101793 |
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| Howard-Peebles PN, Friedman JM, Unaffected carrier males in families with fragile X syndrome. Am J Hum Genet37:956-64 1985 |
| PubMed ID: 3863482 |
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