ID   SDASi001-A
AC   CVCL_D0LL
DR   BioSamples; SAMEA114402110
DR   hPSCreg; SDASi001-A
DR   Wikidata; Q123033447
RX   PubMed=37788557;
CC   From: Qilu University of Technology, Shandong Academy of Sciences; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:11102; SMARCAL1; Simple; p.Ala325Serfs*34 (c.971dupC); Zygosity=Heterozygous (PubMed=37788557).
CC   Sequence variation: Mutation; HGNC; HGNC:11102; SMARCAL1; Simple; c.1334+1G>A; ClinVar=VCV002734387; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=37788557).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C135087; Schimke immunoosseous dysplasia
DI   ORDO; Orphanet_1830; Schimke immuno-osseous dysplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 27-11-25; Version: 4
//
RX   PubMed=37788557; DOI=10.1016/j.scr.2023.103217;
RA   Wang, Xing-Cui
RA   Zhang, Hong-Xia
RA   Wang, Xing-Bang
RA   Zhou, Wei-Ran
RA   Dong, Lin-Lin
RA   Li, Na
RA   He, Qiu-Xia
RT   "Generation of an induced pluripotent stem cell line (SDASi001-A) from
RT   a Schimke immune-osseous dysplasia patient with SMARCAL1 mutations.";
RL   Stem Cell Res. 72:103217-103217(2023).
//