Cellosaurus cell line HIMRi002-A (CVCL

Cellosaurus HIMRi002-A (CVCL_D0F9)

Cross-references
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; 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 Alexander Boeing, Lampros Mavrommatis, Nassa M. Daya, Heidi Zhuge, Leon Volke, Arif Kocabas, Moritz Kneifel, Mohammad Jamil Athamneh, Karsten Krause, Nicolina Sudkamp, Kristina Doring ...Show all 16 authors... , Carsten Theiss, Andreas Roos, Holm Zaehres, Anne-Katrin Guttsches, Matthias Vorgerd; Show fewer authors 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)
Cell line databases/resources	hPSCreg; HIMRi002-A
Biological sample resources	BioSamples; SAMEA114267276
Encyclopedic resources	Wikidata; Q123031673
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3