ID   FDCHi003-A-1
AC   CVCL_A1DG
SY   iPSx-y-ALMS1-c; FDCHi003-B
DR   hPSCreg; FDCHi003-A-1
DR   Wikidata; Q102113816
RX   PubMed=33264725;
CC   From: Children's Hospital of Fudan University; Shanghai; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 428; ALMS1; Simple_corrected; p.Ser1301Ter (c.3902C>A); ClinVar=VCV000264657; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=33264725).
CC   Sequence variation: Mutation; HGNC; 428; ALMS1; Simple; p.Arg2146Ter (c.6436C>T); ClinVar=VCV000210129; Zygosity=Heterozygous (PubMed=33264725).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84549; Alstrom syndrome
DI   ORDO; Orphanet_64; Alstrom syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A1DF ! FDCHi003-A
SX   Male
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33264725; DOI=10.1016/j.scr.2020.102089;
RA   Ji X.-L., Tang Q.-Y., Tang C.-Q., Wu Z.-Y., Ma L., Guo X.-H.,
RA   Cheng G.-Q., Chen Y.-J., Yang T., Xiong M., Zhou W.-H.;
RT   "Generation of an induced pluripotent stem cell line from an Alstrom
RT   syndrome patient with ALMS1 mutation (c.3902C > A, c.6436C > T) and a
RT   gene correction isogenic iPSC line.";
RL   Stem Cell Res. 49:102089-102089(2020).
//