ID   HIMRi002-A
AC   CVCL_D0F9
SY   p.A46T CAV3 hiPSCs #1
DR   BioSamples; SAMEA114267276
DR   hPSCreg; HIMRi002-A
DR   Wikidata; Q123031673
RX   PubMed=37839261;
CC   From: Heimer Institute for Muscle Research; Bochum; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1529; CAV3; Simple; p.Ala46Thr (c.136G>A) (p.A47T); ClinVar=VCV000008281; Zygosity=Heterozygous (PubMed=37839261).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C148325; Rippling muscle disease 2
DI   ORDO; Orphanet_97238; Rippling muscle disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   61Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37839261; DOI=10.1016/j.scr.2023.103220;
RA   Boeing A., Mavrommatis L., Daya N.M., Zhuge H., Volke L., Kocabas A.,
RA   Kneifel M., Athamneh M.J., Krause K., Sudkamp N., Doring K., Theiss C.,
RA   Roos A., Zaehres H., Guttsches A.-K., Vorgerd M.;
RT   "Generation of two human iPSC lines (HIMRi002-A and HIMRi003-A)
RT   derived from caveolinopathy patients with rippling muscle disease.";
RL   Stem Cell Res. 72:103220-103220(2023).
//