ID   LCHi002-A
AC   CVCL_A6XP
SY   MLAR-005.03
DR   hPSCreg; LCHi002-A
DR   Wikidata; Q107115618
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 (from autologous cell line LCHi002-A).
CC   Sequence variation: Mutation; HGNC; 7983; NR5A1; Unexplicit; Ex3del and part of Ex4; Zygosity=Heterozygous (from autologous cell line LCHi002-A).
CC   Sequence variation: Mutation; HGNC; 8783; PDE4D; Simple; p.Gly93Ser (c.277G>A); Zygosity=Heterozygous (from autologous cell line LCHi002-A).
CC   Sequence variation: Mutation; HGNC; 16700; ZFPM2; Simple; p.Asn1087Ser (c.3260A>G); Zygosity=Heterozygous (from autologous cell line LCHi002-A).
CC   Discontinued: hPSCreg; LCHi002-A; true.
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_A6XQ ! LCHi002-B
SX   Male
AG   15-16Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 05-10-23; Version: 4
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