Description:
APPARENTLY HEALTHY INDIVIDUAL
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Apparently Healthy Collection |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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Race
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White
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Family Member
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9
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Relation to Proband
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sister
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX
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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 and by Chromosome Analysis |
| |
| Remarks |
The donor is the normal sister of a Down's syndrome child. The culture was initiated on 2/17/87 by transformation of lymphocytes with Epstein Barr virus. The culture grows in suspension and the cell morphology is spherical. The karyotype is 46,XX; normal diploid female. The affected brother of this donor is AG09394. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| San Roman AK, Godfrey AK, Skaletsky H, Bellott DW, Groff AF, Harris HL, Blanton LV, Hughes JF, Brown L, Phou S, Buscetta A, Kruszka P, Banks N, Dutra A, Pak E, Lasutschinkow PC, Keen C, Davis SM, Tartaglia NR, Samango-Sprouse C, Muenke M, Page DC, The human inactive X chromosome modulates expression of the active X chromosome Cell genomics3:100259 2022 |
| PubMed ID: 36819663 |
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| Cucco F, Sarogni P, Rossato S, Alpa M, Patimo A, Latorre A, Magnani C, Puisac B, Ramos FJ, Pié J, Musio A, Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome American journal of medical genetics Part A3:100259 2019 |
| PubMed ID: 32476269 |
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| Miller JN, Pearce DA, A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis J Child Neurol28(9):1106-11 2013 |
| PubMed ID: 23857568 |
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| Cao K, Blair CD, Faddah DA, Kieckhaefer JE, Olive M, Erdos MR, Nabel EG, Collins FS, Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblasts The Journal of clinical investigation28(9):1106-11 2010 |
| PubMed ID: 21670498 |
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