ID   SMBCi018-A
AC   CVCL_C0JK
DR   BioSamples; SAMEA14366882
DR   hPSCreg; SMBCi018-A
DR   Wikidata; Q112930414
RX   PubMed=35605480;
CC   From: Shandong Medical Biotechnological Center; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:9004; PITX1; Simple; p.Gly299Ala (c.896G>C); ClinVar=VCV000286868; Zygosity=Unspecified; Note=De novo mutation (PubMed=35605480).
CC   Caution: Indicated in PubMed=35605480 both as being established from a 12 year old and a 29 year old patient.
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C188148; Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
DI   ORDO; Orphanet_293150; Familial clubfoot due to PITX1 point mutation
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   12Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=35605480; DOI=10.1016/j.scr.2022.102814;
RA   Han, Zhen-Zhong
RA   Wang, Jing
RA   Luan, Jing
RA   Cui, Ya-Zhou
RA   Han, Jin-Xiang
RT   "Establishment of a control induced pluripotent stem cell line
RT   SMBCi018-A from a patient with congenital talipes equinovarus.";
RL   Stem Cell Res. 62:102814-102814(2022).
//