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Cellosaurus iPSC 08-26 (CVCL_9S72)

[Text version]
Cell line name iPSC 08-26
Synonyms iPS0826#6
Accession CVCL_9S72
Resource Identification Initiative To cite this cell line use: iPSC 08-26 (RRID:CVCL_9S72)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Institut de Bioenginyeria de Catalunya (IBEC); Barcelona; Spain.
Derived from site: In situ; Back, skin; UBERON=UBERON_0001068.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Gene deletion; HGNC; 1480; CAPN3; Zygosity=Heterozygous (PubMed=33862537).
  • Mutation; HGNC; 1480; CAPN3; Simple; p.Ter822Leuext62 (c.2465G>T); ClinVar=VCV000571060; Zygosity=Heterozygous (PubMed=33862537).
Disease Limb-girdle muscular dystrophy type 2A (NCIt: C142079)
Autosomal recessive limb-girdle muscular dystrophy type 2A (ORDO: Orphanet_267)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 22Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=33862537

Markers:
AmelogeninX
CSF1PO11
D5S81811,13
D7S8208,12
D13S31711
D16S53913
D21S1125.2,30
TH017,8
TPOX8
vWA18

Run an STR similarity search on this cell line
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/55/Caracteristicas%20-%20Solicitud_iPS0826_6.pdf
Publications

PubMed=33862537; DOI=10.1016/j.scr.2021.102333
Mateos-Aierdi A.J., Dehesa-Etxebeste M., Goicoechea M., Aiastui-Pujana A., Richaud-Patin Y., Jimenez-Delgado S., Raya A., Naldaiz-Gastesi N., Lopez de Munain A.
Patient-specific iPSC-derived cellular models of LGMDR1.
Stem Cell Res. 53:102333-102333(2021)

Cross-references
Encyclopedic resources Wikidata; Q54898192
Entry history
Entry creation23-Feb-2016
Last entry update29-Jun-2023
Version number12