ID   iPSC 08-46
AC   CVCL_A7HI
DR   Wikidata; Q107115469
RX   PubMed=33862537;
CC   Sequence variation: Mutation; HGNC; HGNC:1480; CAPN3; Simple; p.Arg490Trp (c.1468C>T); ClinVar=VCV000166790; Zygosity=Heterozygous (PubMed=33862537).
CC   Sequence variation: Mutation; HGNC; HGNC:1480; CAPN3; Simple; p.Arg788Serfs*14 (c.2362_2363delAGinsTCATCT); ClinVar=VCV000017618; Zygosity=Heterozygous (PubMed=33862537).
CC   Derived from site: In situ; Buttock, skin; UBERON=UBERON_8480014.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=33862537
ST   Amelogenin: X,Y
ST   CSF1PO: 11
ST   D13S317: 12,13
ST   D16S539: 11
ST   D21S11: 30,32.2
ST   D5S818: 12
ST   D7S820: 9,10
ST   TH01: 9
ST   TPOX: 8,11
ST   vWA: 16,19
DI   NCIt; C142079; Limb-girdle muscular dystrophy type 2A
DI   ORDO; Orphanet_267; Autosomal recessive limb-girdle muscular dystrophy type 2A
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   33Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=33862537; DOI=10.1016/j.scr.2021.102333;
RA   Mateos-Aierdi A.J., Dehesa-Etxebeste M., Goicoechea M.,
RA   Aiastui A., Richaud-Patin Y., Jimenez-Delgado S., Raya A.,
RA   Naldaiz-Gastesi N., Lopez de Munain A.;
RT   "Patient-specific iPSC-derived cellular models of LGMDR1.";
RL   Stem Cell Res. 53:102333-102333(2021).
//