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Cellosaurus ICGi006-A (CVCL_UF67)

[Text version]
Cell line name ICGi006-A
Synonyms m3SMA13
Accession CVCL_UF67
Resource Identification Initiative To cite this cell line use: ICGi006-A (RRID:CVCL_UF67)
Comments From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Gene amplification; HGNC; 11118; SMN2; Triplication; Zygosity=Unspecified (PubMed=30660867).
  • Gene deletion; HGNC; 11117; SMN1; Zygosity=Homozygous (PubMed=30660867).
Disease Spinal muscular atrophy type 2 (NCIt: C156310)
Proximal spinal muscular atrophy type 2 (ORDO: Orphanet_83418)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_UF68 ! ICGi006-B
Sex of cell Male
Age at sampling 34Y
Category Induced pluripotent stem cell
Publications

PubMed=30660867; DOI=10.1016/j.scr.2018.101376
Valetdinova K.R., Maretina M.A., Kuranova M.L., Grigor'eva E.V., Minina Y.M., Kizilova E.A., Kiselev A.V., Medvedev S.P., Baranov V.S., Zakian S.M.
Generation of two spinal muscular atrophy (SMA) type I patient-derived induced pluripotent stem cell (iPSC) lines and two SMA type II patient-derived iPSC lines.
Stem Cell Res. 34:101376-101376(2019)

Cross-references
Cell line databases/resources hPSCreg; ICGi006-A
Biological sample resources BioSamples; SAMEA5131664
Encyclopedic resources Wikidata; Q94313412
Entry history
Entry creation13-Nov-2018
Last entry update29-Jun-2023
Version number10