ID   INNDSUi004-A
AC   CVCL_D6PQ
SY   20-235--F
DR   BioSamples; SAMEA114804862
DR   hPSCreg; INNDSUi004-A
RX   PubMed=38733812;
CC   From: Institute of Neuromuscular and Neurodegenerative Diseases, Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:12011; TPM2; Simple; p.Glu139del (c.412GAG[1]) (c.415-417delGAG); ClinVar=VCV000012465; Zygosity=Heterozygous (PubMed=38733812).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C164225; Nemaline myopathy 4
DI   ORDO; Orphanet_171436; Typical nemaline myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
//
RX   PubMed=38733812; DOI=10.1016/j.scr.2024.103435;
RA   Wang Y.-X., Liu W.-Z., Yang Y.-T., Wang Y., Tang Y., Zhan Z.-X.,
RA   Sun X.-H., Jiao Y.-C., Shan D.-D., Zhang R., Wang D.-D., Sun P.,
RA   Sun X.-L., Yan C.-Z., Liu F.-C.;
RT   "Establishment of an induced pluripotent stem cell (iPSC) line
RT   (INNDSUi004-A) from a patient with congenital nemaline myopathy.";
RL   Stem Cell Res. 77:103435-103435(2024).
//