ID   iPSC 09-89
AC   CVCL_UM91
SY   iPS0989#2f
DR   Wikidata; Q94323026
RX   PubMed=33862537;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Solicitud_iPS0989_2f-m.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: Mutation; HGNC; HGNC:1480; CAPN3; Simple; p.Arg788Serfs*14 (c.2362_2363delAGinsTCATCT); ClinVar=VCV000017618; Zygosity=Homozygous (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: 11,13
ST   D13S317: 12
ST   D16S539: 11,12
ST   D21S11: 29,31.2
ST   D5S818: 12,13
ST   D7S820: 10,12
ST   TH01: 7
ST   TPOX: 8
ST   vWA: 17,18
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   48Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 10-04-25; Version: 12
//
RX   PubMed=33862537; DOI=10.1016/j.scr.2021.102333;
RA   Mateos-Aierdi, Alba Judith
RA   Dehesa-Etxebeste, Martxel
RA   Goicoechea, Maria
RA   Aiastui, Ana
RA   Richaud-Patin, Yvonne
RA   Jimenez-Delgado, Senda
RA   Raya, Angel
RA   Naldaiz-Gastesi, Neia
RA   Lopez de Munain, Adolfo
RT   "Patient-specific iPSC-derived cellular models of LGMDR1.";
RL   Stem Cell Res. 53:102333-102333(2021).
//