Cellosaurus logo
expasy logo

Cellosaurus ICGi005-A (CVCL_UF65)

[Text version]
Cell line name ICGi005-A
Synonyms iSMA40
Accession CVCL_UF65
Resource Identification Initiative To cite this cell line use: ICGi005-A (RRID:CVCL_UF65)
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 deletion; HGNC; 11117; SMN1; Zygosity=Homozygous (PubMed=30660867).
Disease Werdnig-Hoffmann disease (NCIt: C98670)
Proximal spinal muscular atrophy type 1 (ORDO: Orphanet_83330)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_UF66 ! ICGi005-B
Sex of cell Female
Age at sampling 10Y
Category Induced pluripotent stem cell
Publications

CLPUB00461
Grigor'eva E.V., Valetdinova K.R., Ustyantseva E.I., Shevchenko A.I., Medvedev S.P., Mazurok N.A., Maretina M.A., Kuranova M.L., Kiselev A.V., Baranov V.S., Zakian S.M.
Neural differentiation of patient-specific induced pluripotent stem cells from patients with a hereditary form of spinal muscular atrophy.
Geny i Kletki 11:2.70-2.79(2016)

PubMed=30660867; DOI=10.1016/j.scr.2018.101376
Valetdinova K.R., Maretina M.A., Kuranova M.L., Grigor'eva E.V., Minina J.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; ICGi005-A
Biological sample resources BioSamples; SAMEA5100024
Encyclopedic resources Wikidata; Q94313406
Entry history
Entry creation13-Nov-2018
Last entry update29-Jun-2023
Version number10