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Cellosaurus SMBCi018-A (CVCL_C0JK)

[Text version]
Cell line name SMBCi018-A
Accession CVCL_C0JK
Resource Identification Initiative To cite this cell line use: SMBCi018-A (RRID:CVCL_C0JK)
Comments From: Shandong Medical Biotechnological Center; Jinan; China.
Population: Chinese; Han.
Caution: Indicated in PubMed=35605480 both as being established from a 12 year old and a 29 year old patient.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations
  • Mutation; HGNC; 9004; PITX1; Simple; p.Gly299Ala (c.896G>C); ClinVar=VCV000286868; Zygosity=Unspecified; Note=De novo mutation (PubMed=35605480).
Disease Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (NCIt: C188148)
Familial clubfoot due to PITX1 point mutation (ORDO: Orphanet_293150)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 12Y
Category Induced pluripotent stem cell
Publications

PubMed=35605480; DOI=10.1016/j.scr.2022.102814
Han Z.-Z., Wang J., Luan J., Cui Y.-Z., Han J.-X.
Establishment of a control induced pluripotent stem cell line SMBCi018-A from a patient with congenital talipes equinovarus.
Stem Cell Res. 62:102814-102814(2022)

Cross-references
Cell line databases/resources hPSCreg; SMBCi018-A
Biological sample resources BioSamples; SAMEA14366882
Encyclopedic resources Wikidata; Q112930414
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4