ID   iPSC 08-26
AC   CVCL_9S72
SY   iPS0826#6
DR   Wikidata; Q54898192
RX   PubMed=33862537;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/55/Caracteristicas%20-%20Solicitud_iPS0826_6.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Institut de Bioenginyeria de Catalunya (IBEC); Barcelona; Spain.
CC   Sequence variation: Gene deletion; HGNC; 1480; CAPN3; Zygosity=Heterozygous (PubMed=33862537).
CC   Sequence variation: Mutation; HGNC; 1480; CAPN3; Simple; p.Ter822Leuext62 (c.2465G>T); ClinVar=VCV000571060; Zygosity=Heterozygous (PubMed=33862537).
CC   Derived from site: In situ; Back, skin; UBERON=UBERON_0001068.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=33862537
ST   Amelogenin: X
ST   CSF1PO: 11
ST   D13S317: 11
ST   D16S539: 13
ST   D21S11: 25.2,30
ST   D5S818: 11,13
ST   D7S820: 8,12
ST   TH01: 7,8
ST   TPOX: 8
ST   vWA: 18
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   Female
AG   22Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 12
//
RX   PubMed=33862537; DOI=10.1016/j.scr.2021.102333;
RA   Mateos-Aierdi A.J., Dehesa-Etxebeste M., Goicoechea M.,
RA   Aiastui-Pujana 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).
//