ID   iPSC 09-24
AC   CVCL_9S73
SY   iPS0924#6
DR   Wikidata; Q54898193
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/55/Caracteristicas%20-%20Solicitud_iPS0924_6-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; 1480; CAPN3; Simple; c.1782+1072G>C; ClinVar=VCV000946832; Zygosity=Heterozygous (BNLC).
CC   Sequence variation: Mutation; HGNC; 1480; CAPN3; Simple; p.Arg788Serfs*14 (c.2362_2363delAGinsTCATCT); ClinVar=VCV000017618; Zygosity=Heterozygous (BNLC).
CC   Derived from site: In situ; Abdomen, skin; UBERON=UBERON_0001416.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 30-01-24; Version: 14
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