ID   LCHi002-B
AC   CVCL_A6XQ
SY   MLAR-005.04
DR   hPSCreg; LCHi002-B
DR   Wikidata; Q107115622
RX   PubMed=37413951;
CC   From: Lurie Children's Hospital of Chicago; Chicago; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2962; DYNC2H1; Simple; p.Thr3836Ile (c.11507C>T); Zygosity=Heterozygous (PubMed=37413951).
CC   Sequence variation: Mutation; HGNC; 7983; NR5A1; Unexplicit; Ex3del and part of Ex4; Zygosity=Heterozygous (PubMed=37413951).
CC   Sequence variation: Mutation; HGNC; 8783; PDE4D; Simple; p.Gly93Ser (c.277G>A); Zygosity=Heterozygous (PubMed=37413951).
CC   Sequence variation: Mutation; HGNC; 16700; ZFPM2; Simple; p.Asn1087Ser (c.3260A>G); Zygosity=Heterozygous (PubMed=37413951).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C103186; Sexual differentiation disorder
DI   ORDO; Orphanet_90771; Disorder of sex development
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A6XP ! LCHi002-A
SX   Male
AG   15-16Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 05-10-23; Version: 4
//
RX   PubMed=37413951; DOI=10.1016/j.scr.2023.103154;
RA   Siebert A.L., Schwartz G.B., Kubo H., Laronda M.M.;
RT   "Induced pluripotent stem cell line generated from a patient with
RT   differences in sex development (DSD) and multiple genetic variants
RT   including a large deletion in NR5A1.";
RL   Stem Cell Res. 71:103154-103154(2023).
//