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Cellosaurus iPSC 09-25 (CVCL_A7HJ)

[Text version]
Cell line name iPSC 09-25
Accession CVCL_A7HJ
Resource Identification Initiative To cite this cell line use: iPSC 09-25 (RRID:CVCL_A7HJ)
Comments Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:1480; CAPN3; Simple; p.Lys254Glu (c.760A>G); Zygosity=Heterozygous (PubMed=33862537).
  • Mutation; HGNC; HGNC:1480; CAPN3; Simple; p.Pro637Hisfs*25 (c.1910delC); 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 Male
Age at sampling 27Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=33862537

Markers:
AmelogeninX,Y
CSF1PO10
D5S81811
D7S82010,12
D13S3178,11
D16S53911,13
D21S1128,31.2
TH015,8
TPOX8,11
vWA14,16

Run an STR similarity search on this cell line
Publications

PubMed=33862537; DOI=10.1016/j.scr.2021.102333
Mateos-Aierdi A.J., Dehesa-Etxebeste M., Goicoechea M., Aiastui 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; Q107115470
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number6