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Cellosaurus HIMRi002-A (CVCL_D0F9)

[Text version]
Cell line name HIMRi002-A
Synonyms p.A46T CAV3 hiPSCs #1
Accession CVCL_D0F9
Resource Identification Initiative To cite this cell line use: HIMRi002-A (RRID:CVCL_D0F9)
Comments From: Heimer Institute for Muscle Research; Bochum; Germany.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 1529; CAV3; Simple; p.Ala46Thr (c.136G>A) (p.A47T); ClinVar=VCV000008281; Zygosity=Heterozygous (PubMed=37839261).
Disease Rippling muscle disease 2 (NCIt: C148325)
Rippling muscle disease (ORDO: Orphanet_97238)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 61Y
Category Induced pluripotent stem cell
Publications

PubMed=37839261; DOI=10.1016/j.scr.2023.103220
Boeing A., Mavrommatis L., Daya N.M., Zhuge H., Volke L., Kocabas A., Kneifel M., Athamneh M.J., Krause K., Sudkamp N., Doring K., Theiss C., Roos A., Zaehres H., Guttsches A.-K., Vorgerd M.
Generation of two human iPSC lines (HIMRi002-A and HIMRi003-A) derived from caveolinopathy patients with rippling muscle disease.
Stem Cell Res. 72:103220-103220(2023)

Cross-references
Cell line databases/resources hPSCreg; HIMRi002-A
Biological sample resources BioSamples; SAMEA114267276
Encyclopedic resources Wikidata; Q123031673
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2