Cellosaurus cell line SMBCi018-A (CVCL

Cross-references
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; 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 Zhen-Zhong Han, Jing Wang, Jing Luan, Ya-Zhou Cui, Jin-Xiang Han; 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)
Cell line databases/resources	hPSCreg; SMBCi018-A
Biological sample resources	BioSamples; SAMEA14366882
Encyclopedic resources	Wikidata; Q112930414
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	5