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Cellosaurus TAF5 (CVCL_A9Q1)

[Text version]
Cell line name TAF5
Synonyms TAF-5
Accession CVCL_A9Q1
Resource Identification Initiative To cite this cell line use: TAF5 (RRID:CVCL_A9Q1)
Comments Population: Caucasian.
Omics: Array-based CGH.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Disease Phelan-McDermid syndrome (NCIt: C157124)
Ring chromosome 22 syndrome (NCIt: C179702)
Monosomy 22q13.3 (ORDO: Orphanet_48652)
Ring chromosome 22 syndrome (ORDO: Orphanet_1446)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_VQ13 (IMGTi001-A)CVCL_VQ14 (IMGTi001-B)
Sex of cell Female
Age at sampling 3Y
Category Finite cell line
Publications

PubMed=29736186; DOI=10.1186/s13039-018-0375-3
Kashevarova A.A., Belyaeva E.O., Nikonov A.M., Plotnikova O.V., Skryabin N.A., Nikitina T.V., Vasilyev S.A., Yakovleva Y.S., Babushkina N.P., Tolmacheva E.N., Lopatkina M.E., Savchenko R.R., Nazarenko L.P., Lebedev I.N.
Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22.
Mol. Cytogenet. 11:26.1-26.9(2018)

PubMed=30144655; DOI=10.1016/j.scr.2018.08.012
Nikitina T.V., Menzorov A.G., Kashevarova A.A., Gridina M.M., Khabarova A.A., Yakovleva Y.S., Lopatkina M.E., Kizilova E.A., Vasilyev S.A., Serov O.L., Lebedev I.N.
Generation of two iPSC lines (IMGTi001-A and IMGTi001-B) from human skin fibroblasts with ring chromosome 22.
Stem Cell Res. 31:244-248(2018)

PubMed=33619287; DOI=10.1038/s41598-021-83399-3
Nikitina T.V., Kashevarova A.A., Gridina M.M., Lopatkina M.E., Khabarova A.A., Yakovleva Y.S., Menzorov A.G., Minina Y.A., Pristyazhnyuk I.E., Vasilyev S.A., Fedotov D.A., Serov O.L., Lebedev I.N.
Complex biology of constitutional ring chromosomes structure and (in)stability revealed by somatic cell reprogramming.
Sci. Rep. 11:4325-4325(2021)

Cross-references
Encyclopedic resources Wikidata; Q102114967
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number7