ID   iPSC 09-25
AC   CVCL_A7HJ
DR   Wikidata; Q107115470
RX   PubMed=33862537;
CC   Sequence variation: Mutation; HGNC; HGNC:1480; CAPN3; Simple; p.Lys254Glu (c.760A>G); Zygosity=Heterozygous (PubMed=33862537).
CC   Sequence variation: Mutation; HGNC; HGNC:1480; CAPN3; Simple; p.Pro637Hisfs*25 (c.1910delC); Zygosity=Heterozygous (PubMed=33862537).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=33862537
ST   Amelogenin: X,Y
ST   CSF1PO: 10
ST   D13S317: 8,11
ST   D16S539: 11,13
ST   D21S11: 28,31.2
ST   D5S818: 11
ST   D7S820: 10,12
ST   TH01: 5,8
ST   TPOX: 8,11
ST   vWA: 14,16
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   27Y
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).
//