ID   HIMRi003-A
AC   CVCL_D0FA
SY   p.A46T CAV3 hiPSCs #2
DR   BioSamples; SAMEA114267275
DR   hPSCreg; HIMRi003-A
DR   Wikidata; Q123031674
RX   PubMed=37839261;
CC   From: Heimer Institute for Muscle Research; Bochum; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 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.
ST   Source(s): PubMed=37839261
ST   Amelogenin: X
ST   CSF1PO: 10,11
ST   D16S539: 11,13
ST   D5S818: 11,13
ST   D8S1179: 13
ST   FGA: 24.2
ST   TPOX: 8,10
ST   vWA: 14,16
DI   NCIt; C148325; Rippling muscle disease 2
DI   ORDO; Orphanet_97238; Rippling muscle disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   38Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
//
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).
//