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Cellosaurus SDQLCHi004-A (CVCL_XI74)

[Text version]
Cell line name SDQLCHi004-A
Accession CVCL_XI74
Resource Identification Initiative To cite this cell line use: SDQLCHi004-A (RRID:CVCL_XI74)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
Disease Nemaline myopathy 4 (NCIt: C164225)
Typical nemaline myopathy (ORDO: Orphanet_171436)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 3M
Category Induced pluripotent stem cell

PubMed=31526942; DOI=10.1016/j.scr.2019.101559
Ma Y.-Y., Zhang H.-Y., Yang X.-M., Li Y., Guan J.-Y., Lv Y.-Q., Li H.-Y., Liu Y., Gai Z.-T.
Establishment of a human induced pluripotent stem cell line (SDQLCHi004-A) from a patient with nemaline myopathy-4 disease carrying heterozygous mutation in TPM2 gene.
Stem Cell Res. 40:101559-101559(2019)

Cell line databases/resources hPSCreg; SDQLCHi004-A
Encyclopedic resources Wikidata; Q98129450
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number7