ID   CRICKi008-A
AC   CVCL_C5T0
SY   iFCI006; NH13-0078
DR   BioSamples; SAMEA112229690
DR   hPSCreg; CRICKi008-A
DR   Wikidata; Q116048791
RX   PubMed=36989620;
CC   From: The Francis Crick Institute Limited; London; United Kingdom.
CC   Sequence variation: Mutation; HGNC; HGNC:7448; MTM1; Simple; p.Tyr198Ter (c.594C>G); Zygosity=Hemizygous (PubMed=36989620).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C118781; X-linked centronuclear myopathy
DI   ORDO; Orphanet_596; X-linked centronuclear myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   6M
CA   Induced pluripotent stem cell
DT   Created: 15-12-22; Last updated: 19-12-24; Version: 4
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RX   PubMed=36989620; DOI=10.1016/j.scr.2023.103079;
RA   Devito L.G., Lionello V.M., Muntoni F., Tedesco F.S., Healy L.E.;
RT   "Generation of an MTM1-mutant iPSC line (CRICKi008-A) from an
RT   individual with X-linked myotubular myopathy (XLMTM).";
RL   Stem Cell Res. 69:103079-103079(2023).
//